{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602793", "communityStandardTitle": [ "NM_001351169.2(NT5C2):c.1220A>C (p.Asp407Ala)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4166190", "active": true, "id": "COSM4166190" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.104850745T>G?assembly=hg19", "id": "chr10:g.104850745T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.103090988T>G?assembly=hg38", "id": "chr10:g.103090988T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519868", "rs": 1057519868 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 103090988, "referenceAllele": "T", "start": 103090987 } ], "hgvs": [ "NC_000010.11:g.103090988T>G", "CM000672.2:g.103090988T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 104850745, "referenceAllele": "T", "start": 104850744 } ], "hgvs": [ "NC_000010.10:g.104850745T>G", "CM000672.1:g.104850745T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 104840735, "referenceAllele": "T", "start": 104840734 } ], "hgvs": [ "NC_000010.9:g.104840735T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "C", "end": 107319, "referenceAllele": "A", "start": 107318 } ], "hgvs": [ "NG_042272.1:g.107319A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS005976" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1494, "referenceAllele": "A", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000369857.9:c.*875A>C" ], "proteinEffect": { "hgvs": "ENSP00000501806.1:n.*875A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS750492" }, { "coordinates": [ { "allele": "C", "end": 1425, "referenceAllele": "A", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000404739.8:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000383960.3:p.Asp407Ala", "hgvsWellDefined": "ENSP00000383960.3:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS754097", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000404739.8:c.1220A>C" }, "RefSeq": { "hgvs": "NM_001351169.2:c.1220A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000383960.3:p.Asp407Ala" }, "RefSeq": { "hgvs": "NP_001338098.1:p.Asp407Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1861, "referenceAllele": "A", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000674696.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000502679.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000502679.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS774623" }, { "coordinates": [ { "allele": "C", "end": 2950, "referenceAllele": "A", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000674728.1:c.*2700A>C" ], "proteinEffect": { "hgvs": "ENSP00000502126.1:n.*2700A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS774651" }, { "coordinates": [ { "allele": "C", "end": 1596, "referenceAllele": "A", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000674860.1:c.1244A>C" ], "proteinEffect": { "hgvs": "ENSP00000502816.1:p.Asp415Ala", "hgvsWellDefined": "ENSP00000502816.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS774759" }, { "coordinates": [ { "allele": "C", "end": 1392, "referenceAllele": "A", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000675020.1:c.*1064A>C" ], "proteinEffect": { "hgvs": "ENSP00000501653.1:n.*1064A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS774896" }, { "coordinates": [ { "allele": "C", "end": 1850, "referenceAllele": "A", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000675040.1:c.*743A>C" ], "proteinEffect": { "hgvs": "ENSP00000502090.1:n.*743A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS774916" }, { "coordinates": [ { "allele": "C", "end": 1735, "referenceAllele": "A", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000675164.1:c.*1092A>C" ], "proteinEffect": { "hgvs": "ENSP00000502128.1:n.*1092A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775029" }, { "coordinates": [ { "allele": "C", "end": 1497, "referenceAllele": "A", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000675326.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000502205.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000502205.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS775160" }, { "coordinates": [ { "allele": "C", "end": 1538, "referenceAllele": "A", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000675436.1:c.*1158A>C" ], "proteinEffect": { "hgvs": "ENSP00000501565.1:n.*1158A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775259" }, { "coordinates": [ { "allele": "C", "end": 1308, "referenceAllele": "A", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000675645.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000502663.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000502663.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS775437" }, { "coordinates": [ { "allele": "C", "end": 1403, "referenceAllele": "A", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000675811.1:c.*1157A>C" ], "proteinEffect": { "hgvs": "ENSP00000501901.1:n.*1157A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775582" }, { "coordinates": [ { "allele": "C", "end": 1456, "referenceAllele": "A", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000675985.1:c.1133A>C" ], "proteinEffect": { "hgvs": "ENSP00000502215.1:p.Asp378Ala", "hgvsWellDefined": "ENSP00000502215.1:p.Asp378Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS775730" }, { "coordinates": [ { "allele": "C", "end": 1458, "referenceAllele": "A", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000676428.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000501689.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000501689.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS776110" }, { "coordinates": [ { "allele": "C", "end": 1696, "referenceAllele": "A", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000676449.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000502801.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000502801.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS776130" }, { "coordinates": [ { "allele": "C", "end": 1315, "referenceAllele": "A", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000343289.9:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000339479.5:p.Asp407Ala", "hgvsWellDefined": "ENSP00000339479.5:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS261735" }, { "coordinates": [ { "allele": "C", "end": 1404, "referenceAllele": "A", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000369857.8:n.1404A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS267745" }, { "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "A", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000404739.7:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000383960.3:p.Asp407Ala", "hgvsWellDefined": "ENSP00000383960.3:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS280141" }, { "coordinates": [ { "allele": "C", "end": 320, "referenceAllele": "A", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "ENST00000421281.1:c.320A>C" ], "proteinEffect": { "hgvs": "ENSP00000408112.1:p.Asp107Ala", "hgvsWellDefined": "ENSP00000408112.1:p.Asp107Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS286721" }, { "coordinates": [ { "allele": "C", "end": 1315, "referenceAllele": "A", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001134373.2:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001127845.1:p.Asp407Ala", "hgvsWellDefined": "NP_001127845.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS012212" }, { "@id": "http://reg.genome.network/allele/PA645458860", "coordinates": [ { "allele": "C", "end": 1413, "referenceAllele": "A", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_012229.4:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_036361.1:p.Asp407Ala", "hgvsWellDefined": "NP_036361.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS032414" }, { "coordinates": [ { "allele": "C", "end": 1324, "referenceAllele": "A", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269632.3:c.1244A>C" ], "proteinEffect": { "hgvs": "XP_005269689.1:p.Asp415Ala", "hgvsWellDefined": "XP_005269689.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066204" }, { "coordinates": [ { "allele": "C", "end": 1417, "referenceAllele": "A", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269633.3:c.1244A>C" ], "proteinEffect": { "hgvs": "XP_005269690.1:p.Asp415Ala", "hgvsWellDefined": "XP_005269690.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066205" }, { "coordinates": [ { "allele": "C", "end": 1449, "referenceAllele": "A", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269634.3:c.1244A>C" ], "proteinEffect": { "hgvs": "XP_005269691.1:p.Asp415Ala", "hgvsWellDefined": "XP_005269691.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066206" }, { "coordinates": [ { "allele": "C", "end": 1639, "referenceAllele": "A", "start": 1638 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269635.3:c.1244A>C" ], "proteinEffect": { "hgvs": "XP_005269692.1:p.Asp415Ala", "hgvsWellDefined": "XP_005269692.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066207" }, { "coordinates": [ { "allele": "C", "end": 1425, "referenceAllele": "A", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269636.3:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_005269693.1:p.Asp407Ala", "hgvsWellDefined": "XP_005269693.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066208" }, { "coordinates": [ { "allele": "C", "end": 1669, "referenceAllele": "A", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269637.3:c.1157A>C" ], "proteinEffect": { "hgvs": "XP_005269694.1:p.Asp386Ala", "hgvsWellDefined": "XP_005269694.1:p.Asp386Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066209" }, { "coordinates": [ { "allele": "C", "end": 1395, "referenceAllele": "A", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269638.3:c.1148A>C" ], "proteinEffect": { "hgvs": "XP_005269695.1:p.Asp383Ala", "hgvsWellDefined": "XP_005269695.1:p.Asp383Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066210" }, { "coordinates": [ { "allele": "C", "end": 1168, "referenceAllele": "A", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269639.3:c.1133A>C" ], "proteinEffect": { "hgvs": "XP_005269696.1:p.Asp378Ala", "hgvsWellDefined": "XP_005269696.1:p.Asp378Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066211" }, { "coordinates": [ { "allele": "C", "end": 1440, "referenceAllele": "A", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269640.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269697.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269697.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066212" }, { "coordinates": [ { "allele": "C", "end": 1342, "referenceAllele": "A", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269641.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269698.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269698.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066213" }, { "coordinates": [ { "allele": "C", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269642.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269699.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269699.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066214" }, { "coordinates": [ { "allele": "C", "end": 1207, "referenceAllele": "A", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269643.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269700.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269700.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066215" }, { "coordinates": [ { "allele": "C", "end": 1464, "referenceAllele": "A", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269644.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269701.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269701.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066216" }, { "coordinates": [ { "allele": "C", "end": 1366, "referenceAllele": "A", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269645.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269702.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269702.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066217" }, { "coordinates": [ { "allele": "C", "end": 1292, "referenceAllele": "A", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269646.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269703.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269703.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS066218" }, { "coordinates": [ { "allele": "C", "end": 1366, "referenceAllele": "A", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_006717721.2:c.647A>C" ], "proteinEffect": { "hgvs": "XP_006717784.1:p.Asp216Ala", "hgvsWellDefined": "XP_006717784.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS072294" }, { "coordinates": [ { "allele": "C", "end": 1261, "referenceAllele": "A", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_006717722.2:c.647A>C" ], "proteinEffect": { "hgvs": "XP_006717785.1:p.Asp216Ala", "hgvsWellDefined": "XP_006717785.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS072295" }, { "coordinates": [ { "allele": "C", "end": 1163, "referenceAllele": "A", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_006717723.2:c.647A>C" ], "proteinEffect": { "hgvs": "XP_006717786.1:p.Asp216Ala", "hgvsWellDefined": "XP_006717786.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS072296" }, { "coordinates": [ { "allele": "C", "end": 1150, "referenceAllele": "A", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_006717724.2:c.647A>C" ], "proteinEffect": { "hgvs": "XP_006717787.1:p.Asp216Ala", "hgvsWellDefined": "XP_006717787.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS072297" }, { "coordinates": [ { "allele": "C", "end": 1390, "referenceAllele": "A", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_011539534.1:c.1244A>C" ], "proteinEffect": { "hgvs": "XP_011537836.1:p.Asp415Ala", "hgvsWellDefined": "XP_011537836.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS106484" }, { "coordinates": [ { "allele": "C", "end": 1151, "referenceAllele": "A", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_011539535.1:c.1136A>C" ], "proteinEffect": { "hgvs": "XP_011537837.1:p.Asp379Ala", "hgvsWellDefined": "XP_011537837.1:p.Asp379Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS106485" }, { "coordinates": [ { "allele": "C", "end": 1273, "referenceAllele": "A", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_011539536.1:c.1151A>C" ], "proteinEffect": { "hgvs": "XP_011537838.1:p.Asp384Ala", "hgvsWellDefined": "XP_011537838.1:p.Asp384Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS106486" }, { "coordinates": [ { "allele": "C", "end": 1278, "referenceAllele": "A", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_011539537.1:c.1073A>C" ], "proteinEffect": { "hgvs": "XP_011537839.1:p.Asp358Ala", "hgvsWellDefined": "XP_011537839.1:p.Asp358Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS106487" }, { "coordinates": [ { "allele": "C", "end": 1459, "referenceAllele": "A", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351169.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001338098.1:p.Asp407Ala", "hgvsWellDefined": "NP_001338098.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519966" }, { "coordinates": [ { "allele": "C", "end": 1339, "referenceAllele": "A", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351170.1:c.1244A>C" ], "proteinEffect": { "hgvs": "NP_001338099.1:p.Asp415Ala", "hgvsWellDefined": "NP_001338099.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519967" }, { "coordinates": [ { "allele": "C", "end": 1437, "referenceAllele": "A", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351171.1:c.1244A>C" ], "proteinEffect": { "hgvs": "NP_001338100.1:p.Asp415Ala", "hgvsWellDefined": "NP_001338100.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519968" }, { "coordinates": [ { "allele": "C", "end": 1483, "referenceAllele": "A", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351172.1:c.1244A>C" ], "proteinEffect": { "hgvs": "NP_001338101.1:p.Asp415Ala", "hgvsWellDefined": "NP_001338101.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519969" }, { "@id": "http://reg.genome.network/allele/PA916030798", "coordinates": [ { "allele": "C", "end": 1840, "referenceAllele": "A", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351173.1:c.1244A>C" ], "proteinEffect": { "hgvs": "NP_001338102.1:p.Asp415Ala", "hgvsWellDefined": "NP_001338102.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519970" }, { "coordinates": [ { "allele": "C", "end": 1650, "referenceAllele": "A", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351174.1:c.1133A>C" ], "proteinEffect": { "hgvs": "NP_001338103.1:p.Asp378Ala", "hgvsWellDefined": "NP_001338103.1:p.Asp378Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519971" }, { "coordinates": [ { "allele": "C", "end": 1583, "referenceAllele": "A", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351175.1:c.1127A>C" ], "proteinEffect": { "hgvs": "NP_001338104.1:p.Asp376Ala", "hgvsWellDefined": "NP_001338104.1:p.Asp376Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519972" }, { "coordinates": [ { "allele": "C", "end": 1302, "referenceAllele": "A", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351176.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338105.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338105.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519973" }, { "coordinates": [ { "allele": "C", "end": 1376, "referenceAllele": "A", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351177.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338106.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338106.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519974" }, { "coordinates": [ { "allele": "C", "end": 1498, "referenceAllele": "A", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351178.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338107.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338107.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519975" }, { "coordinates": [ { "allele": "C", "end": 2069, "referenceAllele": "A", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351179.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338108.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338108.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519976" }, { "coordinates": [ { "allele": "C", "end": 1433, "referenceAllele": "A", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351180.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338109.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338109.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519977" }, { "coordinates": [ { "allele": "C", "end": 1149, "referenceAllele": "A", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351181.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338110.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338110.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519978" }, { "coordinates": [ { "allele": "C", "end": 1568, "referenceAllele": "A", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351182.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338111.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338111.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519979" }, { "coordinates": [ { "allele": "C", "end": 1241, "referenceAllele": "A", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351183.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338112.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338112.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519980" }, { "coordinates": [ { "allele": "C", "end": 1507, "referenceAllele": "A", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351184.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338113.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338113.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519981" }, { "coordinates": [ { "allele": "C", "end": 1528, "referenceAllele": "A", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351185.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338114.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338114.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519982" }, { "coordinates": [ { "allele": "C", "end": 1592, "referenceAllele": "A", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351186.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338115.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338115.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519983" }, { "coordinates": [ { "allele": "C", "end": 1711, "referenceAllele": "A", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351187.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338116.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338116.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519984" }, { "coordinates": [ { "allele": "C", "end": 1494, "referenceAllele": "A", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351188.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338117.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338117.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519985" }, { "coordinates": [ { "allele": "C", "end": 2008, "referenceAllele": "A", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351189.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338118.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338118.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519986" }, { "coordinates": [ { "allele": "C", "end": 1901, "referenceAllele": "A", "start": 1900 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351190.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338119.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338119.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519987" }, { "coordinates": [ { "allele": "C", "end": 1619, "referenceAllele": "A", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351191.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338120.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338120.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519988" }, { "coordinates": [ { "allele": "C", "end": 1711, "referenceAllele": "A", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351192.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338121.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338121.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519989" }, { "coordinates": [ { "allele": "C", "end": 1735, "referenceAllele": "A", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351193.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338122.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338122.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519990" }, { "coordinates": [ { "allele": "C", "end": 1282, "referenceAllele": "A", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351194.1:c.506A>C" ], "proteinEffect": { "hgvs": "NP_001338123.1:p.Asp169Ala", "hgvsWellDefined": "NP_001338123.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519991" }, { "coordinates": [ { "allele": "C", "end": 1417, "referenceAllele": "A", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351195.1:c.506A>C" ], "proteinEffect": { "hgvs": "NP_001338124.1:p.Asp169Ala", "hgvsWellDefined": "NP_001338124.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519992" }, { "coordinates": [ { "allele": "C", "end": 1441, "referenceAllele": "A", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351196.1:c.506A>C" ], "proteinEffect": { "hgvs": "NP_001338125.1:p.Asp169Ala", "hgvsWellDefined": "NP_001338125.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519993" }, { "coordinates": [ { "allele": "C", "end": 1474, "referenceAllele": "A", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351197.1:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338126.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338126.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS519994" }, { "coordinates": [ { "allele": "C", "end": 2143, "referenceAllele": "A", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269637.5:c.1157A>C" ], "proteinEffect": { "hgvs": "XP_005269694.1:p.Asp386Ala", "hgvsWellDefined": "XP_005269694.1:p.Asp386Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS536794" }, { "coordinates": [ { "allele": "C", "end": 1366, "referenceAllele": "A", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269645.4:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269702.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269702.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS536795" }, { "coordinates": [ { "allele": "C", "end": 1292, "referenceAllele": "A", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_005269646.4:c.647A>C" ], "proteinEffect": { "hgvs": "XP_005269703.1:p.Asp216Ala", "hgvsWellDefined": "XP_005269703.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS536796" }, { "coordinates": [ { "allele": "C", "end": 1366, "referenceAllele": "A", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_006717721.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_006717784.1:p.Asp216Ala", "hgvsWellDefined": "XP_006717784.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS539466" }, { "coordinates": [ { "allele": "C", "end": 1163, "referenceAllele": "A", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_006717723.3:c.647A>C" ], "proteinEffect": { "hgvs": "XP_006717786.1:p.Asp216Ala", "hgvsWellDefined": "XP_006717786.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS539467" }, { "coordinates": [ { "allele": "C", "end": 1278, "referenceAllele": "A", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_011539537.2:c.1073A>C" ], "proteinEffect": { "hgvs": "XP_011537839.1:p.Asp358Ala", "hgvsWellDefined": "XP_011537839.1:p.Asp358Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS553696" }, { "coordinates": [ { "allele": "C", "end": 1193, "referenceAllele": "A", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_017015947.2:c.1151A>C" ], "proteinEffect": { "hgvs": "XP_016871436.1:p.Asp384Ala", "hgvsWellDefined": "XP_016871436.1:p.Asp384Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS568526" }, { "coordinates": [ { "allele": "C", "end": 1420, "referenceAllele": "A", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_017015966.1:c.647A>C" ], "proteinEffect": { "hgvs": "XP_016871455.1:p.Asp216Ala", "hgvsWellDefined": "XP_016871455.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS568527" }, { "coordinates": [ { "allele": "C", "end": 1355, "referenceAllele": "A", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_017015967.1:c.647A>C" ], "proteinEffect": { "hgvs": "XP_016871456.1:p.Asp216Ala", "hgvsWellDefined": "XP_016871456.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS568528" }, { "coordinates": [ { "allele": "C", "end": 1407, "referenceAllele": "A", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_017015974.1:c.506A>C" ], "proteinEffect": { "hgvs": "XP_016871463.1:p.Asp169Ala", "hgvsWellDefined": "XP_016871463.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS568529" }, { "coordinates": [ { "allele": "C", "end": 1956, "referenceAllele": "A", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447901.1:c.1244A>C" ], "proteinEffect": { "hgvs": "XP_024303669.1:p.Asp415Ala", "hgvsWellDefined": "XP_024303669.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581482" }, { "coordinates": [ { "allele": "C", "end": 1758, "referenceAllele": "A", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447902.1:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_024303670.1:p.Asp407Ala", "hgvsWellDefined": "XP_024303670.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581483" }, { "coordinates": [ { "allele": "C", "end": 1127, "referenceAllele": "A", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447903.1:c.1112A>C" ], "proteinEffect": { "hgvs": "XP_024303671.1:p.Asp371Ala", "hgvsWellDefined": "XP_024303671.1:p.Asp371Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581484" }, { "coordinates": [ { "allele": "C", "end": 1558, "referenceAllele": "A", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447904.1:c.647A>C" ], "proteinEffect": { "hgvs": "XP_024303672.1:p.Asp216Ala", "hgvsWellDefined": "XP_024303672.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581485" }, { "coordinates": [ { "allele": "C", "end": 2080, "referenceAllele": "A", "start": 2079 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447905.1:c.572A>C" ], "proteinEffect": { "hgvs": "XP_024303673.1:p.Asp191Ala", "hgvsWellDefined": "XP_024303673.1:p.Asp191Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581486" }, { "coordinates": [ { "allele": "C", "end": 3173, "referenceAllele": "A", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447907.1:c.572A>C" ], "proteinEffect": { "hgvs": "XP_024303675.1:p.Asp191Ala", "hgvsWellDefined": "XP_024303675.1:p.Asp191Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581488" }, { "coordinates": [ { "allele": "C", "end": 3188, "referenceAllele": "A", "start": 3187 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447908.1:c.572A>C" ], "proteinEffect": { "hgvs": "XP_024303676.1:p.Asp191Ala", "hgvsWellDefined": "XP_024303676.1:p.Asp191Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581489" }, { "coordinates": [ { "allele": "C", "end": 1392, "referenceAllele": "A", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447909.1:c.506A>C" ], "proteinEffect": { "hgvs": "XP_024303677.1:p.Asp169Ala", "hgvsWellDefined": "XP_024303677.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581490" }, { "coordinates": [ { "allele": "C", "end": 1375, "referenceAllele": "A", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447910.1:c.506A>C" ], "proteinEffect": { "hgvs": "XP_024303678.1:p.Asp169Ala", "hgvsWellDefined": "XP_024303678.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581491" }, { "coordinates": [ { "allele": "C", "end": 3114, "referenceAllele": "A", "start": 3113 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "XM_024447911.1:c.572A>C" ], "proteinEffect": { "hgvs": "XP_024303679.1:p.Asp191Ala", "hgvsWellDefined": "XP_024303679.1:p.Asp191Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS581492" }, { "coordinates": [ { "allele": "C", "end": 1281, "referenceAllele": "A", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001134373.3:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001127845.1:p.Asp407Ala", "hgvsWellDefined": "NP_001127845.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS677215" }, { "coordinates": [ { "allele": "C", "end": 1425, "referenceAllele": "A", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351169.2:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001338098.1:p.Asp407Ala", "hgvsWellDefined": "NP_001338098.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS688684", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000404739.8:c.1220A>C" }, "RefSeq": { "hgvs": "NM_001351169.2:c.1220A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000383960.3:p.Asp407Ala" }, "RefSeq": { "hgvs": "NP_001338098.1:p.Asp407Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1305, "referenceAllele": "A", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351170.2:c.1244A>C" ], "proteinEffect": { "hgvs": "NP_001338099.1:p.Asp415Ala", "hgvsWellDefined": "NP_001338099.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719727" }, { "coordinates": [ { "allele": "C", "end": 1403, "referenceAllele": "A", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351171.2:c.1244A>C" ], "proteinEffect": { "hgvs": "NP_001338100.1:p.Asp415Ala", "hgvsWellDefined": "NP_001338100.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719728" }, { "coordinates": [ { "allele": "C", "end": 1449, "referenceAllele": "A", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351172.2:c.1244A>C" ], "proteinEffect": { "hgvs": "NP_001338101.1:p.Asp415Ala", "hgvsWellDefined": "NP_001338101.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719729" }, { "@id": "http://reg.genome.network/allele/PA916030798", "coordinates": [ { "allele": "C", "end": 1840, "referenceAllele": "A", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351173.2:c.1244A>C" ], "proteinEffect": { "hgvs": "NP_001338102.1:p.Asp415Ala", "hgvsWellDefined": "NP_001338102.1:p.Asp415Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719730" }, { "coordinates": [ { "allele": "C", "end": 1549, "referenceAllele": "A", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351175.2:c.1127A>C" ], "proteinEffect": { "hgvs": "NP_001338104.1:p.Asp376Ala", "hgvsWellDefined": "NP_001338104.1:p.Asp376Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719731" }, { "coordinates": [ { "allele": "C", "end": 1268, "referenceAllele": "A", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351176.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338105.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338105.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719732" }, { "coordinates": [ { "allele": "C", "end": 1342, "referenceAllele": "A", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351177.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338106.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338106.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719733" }, { "coordinates": [ { "allele": "C", "end": 1464, "referenceAllele": "A", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351178.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338107.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338107.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719734" }, { "coordinates": [ { "allele": "C", "end": 2069, "referenceAllele": "A", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351179.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338108.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338108.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719735" }, { "coordinates": [ { "allele": "C", "end": 1399, "referenceAllele": "A", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351180.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338109.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338109.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719736" }, { "coordinates": [ { "allele": "C", "end": 1115, "referenceAllele": "A", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351181.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338110.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338110.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719737" }, { "coordinates": [ { "allele": "C", "end": 1534, "referenceAllele": "A", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351182.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338111.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338111.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719738" }, { "coordinates": [ { "allele": "C", "end": 1207, "referenceAllele": "A", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351183.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338112.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338112.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719739" }, { "coordinates": [ { "allele": "C", "end": 1473, "referenceAllele": "A", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351184.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338113.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338113.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719740" }, { "coordinates": [ { "allele": "C", "end": 1494, "referenceAllele": "A", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351185.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338114.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338114.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719741" }, { "coordinates": [ { "allele": "C", "end": 1558, "referenceAllele": "A", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351186.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338115.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338115.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719742" }, { "coordinates": [ { "allele": "C", "end": 1677, "referenceAllele": "A", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351187.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338116.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338116.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719743" }, { "coordinates": [ { "allele": "C", "end": 1460, "referenceAllele": "A", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351188.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338117.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338117.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719744" }, { "coordinates": [ { "allele": "C", "end": 2008, "referenceAllele": "A", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351189.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338118.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338118.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719745" }, { "coordinates": [ { "allele": "C", "end": 1901, "referenceAllele": "A", "start": 1900 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351190.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338119.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338119.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719746" }, { "coordinates": [ { "allele": "C", "end": 1248, "referenceAllele": "A", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351194.2:c.506A>C" ], "proteinEffect": { "hgvs": "NP_001338123.1:p.Asp169Ala", "hgvsWellDefined": "NP_001338123.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719747" }, { "coordinates": [ { "allele": "C", "end": 1383, "referenceAllele": "A", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351195.2:c.506A>C" ], "proteinEffect": { "hgvs": "NP_001338124.1:p.Asp169Ala", "hgvsWellDefined": "NP_001338124.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719748" }, { "coordinates": [ { "allele": "C", "end": 1407, "referenceAllele": "A", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351196.2:c.506A>C" ], "proteinEffect": { "hgvs": "NP_001338125.1:p.Asp169Ala", "hgvsWellDefined": "NP_001338125.1:p.Asp169Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719749" }, { "coordinates": [ { "allele": "C", "end": 1440, "referenceAllele": "A", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_001351197.2:c.647A>C" ], "proteinEffect": { "hgvs": "NP_001338126.1:p.Asp216Ala", "hgvsWellDefined": "NP_001338126.1:p.Asp216Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS719750" }, { "@id": "http://reg.genome.network/allele/PA645458860", "coordinates": [ { "allele": "C", "end": 1379, "referenceAllele": "A", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN008022", "geneNCBI_id": 22978, "geneSymbol": "NT5C2", "hgvs": [ "NM_012229.5:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_036361.1:p.Asp407Ala", "hgvsWellDefined": "NP_036361.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS727854" } ], "type": "nucleotide" }