{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390886638", "communityStandardTitle": [ "NM_177438.3(DICER1):c.1220A>C (p.Asp407Ala)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.95590689T>G?assembly=hg19", "id": "chr14:g.95590689T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.95124352T>G?assembly=hg38", "id": "chr14:g.95124352T>G" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 95124352, "referenceAllele": "T", "start": 95124351 } ], "hgvs": [ "NC_000014.9:g.95124352T>G", "CM000676.2:g.95124352T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 95590689, "referenceAllele": "T", "start": 95590688 } ], "hgvs": [ "NC_000014.8:g.95590689T>G", "CM000676.1:g.95590689T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 94660442, "referenceAllele": "T", "start": 94660441 } ], "hgvs": [ "NC_000014.7:g.94660442T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "C", "end": 38071, "referenceAllele": "A", "start": 38070 } ], "hgvs": [ "NG_016311.1:g.38071A>C", "LRG_492:g.38071A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS003089" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1555, "referenceAllele": "A", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000529720.2:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000433926.2:p.Asp407Ala", "hgvsWellDefined": "ENSP00000433926.2:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS905696" }, { "coordinates": [ { "allele": "C", "end": 1649, "referenceAllele": "A", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000531162.7:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000433060.3:p.Asp407Ala", "hgvsWellDefined": "ENSP00000433060.3:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS905712" }, { "coordinates": [ { "allele": "C", "end": 1664, "referenceAllele": "A", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000674628.2:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000502730.2:p.Asp407Ala", "hgvsWellDefined": "ENSP00000502730.2:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS906551" }, { "coordinates": [ { "allele": "C", "end": 1629, "referenceAllele": "A", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000675540.2:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000501988.2:p.Asp407Ala", "hgvsWellDefined": "ENSP00000501988.2:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS906552" }, { "coordinates": [ { "allele": "C", "end": 1468, "referenceAllele": "A", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696733.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000512838.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000512838.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS908178" }, { "coordinates": [ { "allele": "C", "end": 1513, "referenceAllele": "A", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696734.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000512839.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000512839.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS908179" }, { "coordinates": [ { "allele": "C", "end": 1629, "referenceAllele": "A", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696736.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000512840.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000512840.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS908181" }, { "coordinates": [ { "allele": "C", "end": 1482, "referenceAllele": "A", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696737.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000512841.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000512841.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS908182" }, { "coordinates": [ { "allele": "C", "end": 2326, "referenceAllele": "A", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696921.1:n.2326A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS908357" }, { "coordinates": [ { "allele": "C", "end": 1629, "referenceAllele": "A", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696922.1:n.1629A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS908358" }, { "coordinates": [ { "allele": "C", "end": 1629, "referenceAllele": "A", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696923.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000512976.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000512976.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS908359" }, { "coordinates": [ { "allele": "C", "end": 1629, "referenceAllele": "A", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696924.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000512977.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000512977.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS908360" }, { "coordinates": [ { "allele": "C", "end": 1629, "referenceAllele": "A", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696925.1:n.1629A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS908361" }, { "coordinates": [ { "allele": "C", "end": 823, "referenceAllele": "A", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696927.1:n.823A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS908363" }, { "coordinates": [ { "allele": "C", "end": 1417, "referenceAllele": "A", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696928.1:n.1417A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS908364" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "A", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000343455.8:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000343745.3:p.Asp407Ala", "hgvsWellDefined": "ENSP00000343745.3:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS748142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343455.8:c.1220A>C" }, "RefSeq": { "hgvs": "NM_177438.3:c.1220A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343745.3:p.Asp407Ala" }, "RefSeq": { "hgvs": "NP_803187.1:p.Asp407Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1623, "referenceAllele": "A", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000393063.6:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000376783.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000376783.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS753087" }, { "coordinates": [ { "allele": "C", "end": 1512, "referenceAllele": "A", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000526495.6:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000437256.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000437256.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS758968" }, { "coordinates": [ { "allele": "C", "end": 1635, "referenceAllele": "A", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000532939.3:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000452556.2:p.Asp407Ala", "hgvsWellDefined": "ENSP00000452556.2:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS759315" }, { "coordinates": [ { "allele": "C", "end": 1491, "referenceAllele": "A", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000556045.6:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000451041.2:p.Asp407Ala", "hgvsWellDefined": "ENSP00000451041.2:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS760149" }, { "coordinates": [ { "allele": "C", "end": 1616, "referenceAllele": "A", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000674628.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000502730.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000502730.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS774567" }, { "coordinates": [ { "allele": "C", "end": 1495, "referenceAllele": "A", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000675995.1:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000502591.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000502591.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS775738" }, { "coordinates": [ { "allele": "C", "end": 1458, "referenceAllele": "A", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000343455.7:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000343745.3:p.Asp407Ala", "hgvsWellDefined": "ENSP00000343745.3:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS261767" }, { "coordinates": [ { "allele": "C", "end": 1402, "referenceAllele": "A", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000393063.5:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000376783.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000376783.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS275432" }, { "coordinates": [ { "allele": "C", "end": 1512, "referenceAllele": "A", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000526495.5:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000437256.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000437256.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS352351" }, { "coordinates": [ { "allele": "C", "end": 1453, "referenceAllele": "A", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000527414.5:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000435681.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000435681.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS353123" }, { "coordinates": [ { "allele": "C", "end": 1229, "referenceAllele": "A", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000541352.5:c.1220A>C" ], "proteinEffect": { "hgvs": "ENSP00000444719.1:p.Asp407Ala", "hgvsWellDefined": "ENSP00000444719.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS362881" }, { "coordinates": [ { "allele": "C", "end": 1265, "referenceAllele": "A", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001195573.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001182502.1:p.Asp407Ala", "hgvsWellDefined": "NP_001182502.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS016633" }, { "coordinates": [ { "allele": "C", "end": 1453, "referenceAllele": "A", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001271282.2:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001258211.1:p.Asp407Ala", "hgvsWellDefined": "NP_001258211.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS020518" }, { "coordinates": [ { "allele": "C", "end": 1341, "referenceAllele": "A", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001291628.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001278557.1:p.Asp407Ala", "hgvsWellDefined": "NP_001278557.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS024280" }, { "coordinates": [ { "allele": "C", "end": 1512, "referenceAllele": "A", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_030621.4:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_085124.2:p.Asp407Ala", "hgvsWellDefined": "NP_085124.2:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS038344" }, { "coordinates": [ { "allele": "C", "end": 1458, "referenceAllele": "A", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_177438.2:c.1220A>C", "LRG_492t1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_803187.1:p.Asp407Ala", "hgvsWellDefined": "NP_803187.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS043345" }, { "coordinates": [ { "allele": "C", "end": 1644, "referenceAllele": "A", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536599.1:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534901.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534901.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS103584" }, { "coordinates": [ { "allele": "C", "end": 1456, "referenceAllele": "A", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536600.1:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534902.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534902.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS103585" }, { "coordinates": [ { "allele": "C", "end": 1683, "referenceAllele": "A", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536601.1:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534903.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534903.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS103586" }, { "coordinates": [ { "allele": "C", "end": 1574, "referenceAllele": "A", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536602.1:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534904.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534904.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS103587" }, { "coordinates": [ { "allele": "C", "end": 1535, "referenceAllele": "A", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536603.1:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534905.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534905.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS103588" }, { "coordinates": [ { "allele": "C", "end": 1340, "referenceAllele": "A", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536604.1:c.815A>C" ], "proteinEffect": { "hgvs": "XP_011534906.1:p.Asp272Ala", "hgvsWellDefined": "XP_011534906.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS103589" }, { "coordinates": [ { "allele": "C", "end": 2466, "referenceAllele": "A", "start": 2465 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536599.2:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534901.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534901.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS552556" }, { "coordinates": [ { "allele": "C", "end": 2305, "referenceAllele": "A", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536600.3:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534902.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534902.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS552557" }, { "coordinates": [ { "allele": "C", "end": 1663, "referenceAllele": "A", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536601.3:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534903.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534903.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS552558" }, { "coordinates": [ { "allele": "C", "end": 1554, "referenceAllele": "A", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536602.3:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_011534904.1:p.Asp407Ala", "hgvsWellDefined": "XP_011534904.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS552559" }, { "coordinates": [ { "allele": "C", "end": 1340, "referenceAllele": "A", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536604.2:c.815A>C" ], "proteinEffect": { "hgvs": "XP_011534906.1:p.Asp272Ala", "hgvsWellDefined": "XP_011534906.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS552560" }, { "coordinates": [ { "allele": "C", "end": 1856, "referenceAllele": "A", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021120.2:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_016876609.1:p.Asp407Ala", "hgvsWellDefined": "XP_016876609.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS572427" }, { "coordinates": [ { "allele": "C", "end": 2138, "referenceAllele": "A", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021121.2:c.1220A>C" ], "proteinEffect": { "hgvs": "XP_016876610.1:p.Asp407Ala", "hgvsWellDefined": "XP_016876610.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS572428" }, { "coordinates": [ { "allele": "C", "end": 2335, "referenceAllele": "A", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021122.2:c.815A>C" ], "proteinEffect": { "hgvs": "XP_016876611.1:p.Asp272Ala", "hgvsWellDefined": "XP_016876611.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS572429" }, { "coordinates": [ { "allele": "C", "end": 1725, "referenceAllele": "A", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021123.2:c.815A>C" ], "proteinEffect": { "hgvs": "XP_016876612.1:p.Asp272Ala", "hgvsWellDefined": "XP_016876612.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS572430" }, { "coordinates": [ { "allele": "C", "end": 1444, "referenceAllele": "A", "start": 1443 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001271282.3:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001258211.1:p.Asp407Ala", "hgvsWellDefined": "NP_001258211.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS681127" }, { "coordinates": [ { "allele": "C", "end": 1341, "referenceAllele": "A", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001291628.2:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001278557.1:p.Asp407Ala", "hgvsWellDefined": "NP_001278557.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS716707" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "A", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_177438.3:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_803187.1:p.Asp407Ala", "hgvsWellDefined": "NP_803187.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS729648", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343455.8:c.1220A>C" }, "RefSeq": { "hgvs": "NM_177438.3:c.1220A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343745.3:p.Asp407Ala" }, "RefSeq": { "hgvs": "NP_803187.1:p.Asp407Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1615, "referenceAllele": "A", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395677.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382606.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382606.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782952" }, { "coordinates": [ { "allele": "C", "end": 1404, "referenceAllele": "A", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395678.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382607.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382607.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782953" }, { "coordinates": [ { "allele": "C", "end": 1732, "referenceAllele": "A", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395679.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382608.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382608.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782954" }, { "coordinates": [ { "allele": "C", "end": 1571, "referenceAllele": "A", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395680.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382609.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382609.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782955" }, { "coordinates": [ { "allele": "C", "end": 1875, "referenceAllele": "A", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395682.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382611.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382611.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782956" }, { "coordinates": [ { "allele": "C", "end": 1666, "referenceAllele": "A", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395683.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382612.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382612.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782957" }, { "coordinates": [ { "allele": "C", "end": 1708, "referenceAllele": "A", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395684.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382613.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382613.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782958" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "A", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395685.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382614.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382614.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782959" }, { "coordinates": [ { "allele": "C", "end": 1557, "referenceAllele": "A", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395686.1:c.938A>C" ], "proteinEffect": { "hgvs": "NP_001382615.1:p.Asp313Ala", "hgvsWellDefined": "NP_001382615.1:p.Asp313Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782960" }, { "coordinates": [ { "allele": "C", "end": 1245, "referenceAllele": "A", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395687.1:c.815A>C" ], "proteinEffect": { "hgvs": "NP_001382616.1:p.Asp272Ala", "hgvsWellDefined": "NP_001382616.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782961" }, { "coordinates": [ { "allele": "C", "end": 1601, "referenceAllele": "A", "start": 1600 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395688.1:c.815A>C" ], "proteinEffect": { "hgvs": "NP_001382617.1:p.Asp272Ala", "hgvsWellDefined": "NP_001382617.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782962" }, { "coordinates": [ { "allele": "C", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395689.1:c.815A>C" ], "proteinEffect": { "hgvs": "NP_001382618.1:p.Asp272Ala", "hgvsWellDefined": "NP_001382618.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782963" }, { "coordinates": [ { "allele": "C", "end": 1440, "referenceAllele": "A", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395690.1:c.815A>C" ], "proteinEffect": { "hgvs": "NP_001382619.1:p.Asp272Ala", "hgvsWellDefined": "NP_001382619.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782964" }, { "coordinates": [ { "allele": "C", "end": 1456, "referenceAllele": "A", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395691.1:c.653A>C" ], "proteinEffect": { "hgvs": "NP_001382620.1:p.Asp218Ala", "hgvsWellDefined": "NP_001382620.1:p.Asp218Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782965" }, { "coordinates": [ { "allele": "C", "end": 1732, "referenceAllele": "A", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395692.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382621.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382621.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782966" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "A", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395693.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382622.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382622.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782967" }, { "coordinates": [ { "allele": "C", "end": 1571, "referenceAllele": "A", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395694.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382623.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382623.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782968" }, { "coordinates": [ { "allele": "C", "end": 1666, "referenceAllele": "A", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395695.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382624.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382624.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782969" }, { "coordinates": [ { "allele": "C", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395696.1:c.815A>C" ], "proteinEffect": { "hgvs": "NP_001382625.1:p.Asp272Ala", "hgvsWellDefined": "NP_001382625.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782970" }, { "coordinates": [ { "allele": "C", "end": 1732, "referenceAllele": "A", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395697.1:c.-349A>C" ], "proteinEffect": { "hgvs": "NP_001382626.1:n.-349A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS782971" }, { "coordinates": [ { "allele": "C", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395698.1:c.815A>C" ], "proteinEffect": { "hgvs": "NP_001382627.1:p.Asp272Ala", "hgvsWellDefined": "NP_001382627.1:p.Asp272Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782972" }, { "coordinates": [ { "allele": "C", "end": 1732, "referenceAllele": "A", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395699.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382628.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382628.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782973" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "A", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395700.1:c.1220A>C" ], "proteinEffect": { "hgvs": "NP_001382629.1:p.Asp407Ala", "hgvsWellDefined": "NP_001382629.1:p.Asp407Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS782974" }, { "coordinates": [ { "allele": "C", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172715.1:n.1434A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS784610" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "A", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172716.1:n.1565A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS784611" }, { "coordinates": [ { "allele": "C", "end": 1732, "referenceAllele": "A", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172717.1:n.1732A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS784612" }, { "coordinates": [ { "allele": "C", "end": 1732, "referenceAllele": "A", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172718.1:n.1732A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS784613" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "A", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172719.1:n.1565A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS784614" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "A", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172720.1:n.1565A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS784615" } ], "type": "nucleotide" }