{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390864656", "communityStandardTitle": [ "NM_177438.3(DICER1):c.5437G>A (p.Glu1813Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3738459", "active": true, "id": "COSM3738459" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=921291[alleleid]", "alleleId": 921291, "preferredName": "NM_177438.3(DICER1):c.5437G>A (p.Glu1813Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/933088", "RCV": [ "RCV001201099" ], "variationId": 933088 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.95557630C>T?assembly=hg19", "id": "chr14:g.95557630C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.95091293C>T?assembly=hg38", "id": "chr14:g.95091293C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1889806807", "rs": 1889806807 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-95091293-C-T?dataset=gnomad_r4", "id": "14-95091293-C-T", "variant": "14:95091293 C / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 95091293, "referenceAllele": "C", "start": 95091292 } ], "hgvs": [ "NC_000014.9:g.95091293C>T", "CM000676.2:g.95091293C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 95557630, "referenceAllele": "C", "start": 95557629 } ], "hgvs": [ "NC_000014.8:g.95557630C>T", "CM000676.1:g.95557630C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94627383, "referenceAllele": "C", "start": 94627382 } ], "hgvs": [ "NC_000014.7:g.94627383C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 71130, "referenceAllele": "G", "start": 71129 } ], "hgvs": [ "NG_016311.1:g.71130G>A", "LRG_492:g.71130G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003089" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5772, "referenceAllele": "G", "start": 5771 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000529720.2:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000433926.2:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000433926.2:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS905696" }, { "coordinates": [ { "allele": "A", "end": 5866, "referenceAllele": "G", "start": 5865 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000531162.7:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000433060.3:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000433060.3:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS905712" }, { "coordinates": [ { "allele": "A", "end": 5881, "referenceAllele": "G", "start": 5880 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000674628.2:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000502730.2:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000502730.2:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS906551" }, { "coordinates": [ { "allele": "A", "end": 5769, "referenceAllele": "G", "start": 5768 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000675540.2:c.*2087G>A" ], "proteinEffect": { "hgvs": "ENSP00000501988.2:n.*2087G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS906552" }, { "coordinates": [ { "allele": "A", "end": 5680, "referenceAllele": "G", "start": 5679 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696733.1:c.*59G>A" ], "proteinEffect": { "hgvs": "ENSP00000512838.1:n.*59G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908178" }, { "coordinates": [ { "allele": "A", "end": 5755, "referenceAllele": "G", "start": 5754 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696734.1:c.*92G>A" ], "proteinEffect": { "hgvs": "ENSP00000512839.1:n.*92G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908179" }, { "coordinates": [ { "allele": "A", "end": 2424, "referenceAllele": "G", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696735.1:n.2424G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908180" }, { "coordinates": [ { "allele": "A", "end": 5846, "referenceAllele": "G", "start": 5845 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696736.1:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000512840.1:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000512840.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS908181" }, { "coordinates": [ { "allele": "A", "end": 5700, "referenceAllele": "G", "start": 5699 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696920.1:n.5700G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908356" }, { "coordinates": [ { "allele": "A", "end": 6543, "referenceAllele": "G", "start": 6542 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696921.1:n.6543G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908357" }, { "coordinates": [ { "allele": "A", "end": 8368, "referenceAllele": "G", "start": 8367 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696922.1:n.8368G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908358" }, { "coordinates": [ { "allele": "A", "end": 5871, "referenceAllele": "G", "start": 5870 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696923.1:c.*92G>A" ], "proteinEffect": { "hgvs": "ENSP00000512976.1:n.*92G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908359" }, { "coordinates": [ { "allele": "A", "end": 5841, "referenceAllele": "G", "start": 5840 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696924.1:c.*59G>A" ], "proteinEffect": { "hgvs": "ENSP00000512977.1:n.*59G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908360" }, { "coordinates": [ { "allele": "A", "end": 8368, "referenceAllele": "G", "start": 8367 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696925.1:n.8368G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908361" }, { "coordinates": [ { "allele": "A", "end": 5782, "referenceAllele": "G", "start": 5781 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000343455.8:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000343745.3:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000343745.3:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343455.8:c.5437G>A" }, "RefSeq": { "hgvs": "NM_177438.3:c.5437G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343745.3:p.Glu1813Lys" }, "RefSeq": { "hgvs": "NP_803187.1:p.Glu1813Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 5840, "referenceAllele": "G", "start": 5839 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000393063.6:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000376783.1:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000376783.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753087" }, { "coordinates": [ { "allele": "A", "end": 5729, "referenceAllele": "G", "start": 5728 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000526495.6:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000437256.1:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000437256.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS758968" }, { "coordinates": [ { "allele": "A", "end": 5834, "referenceAllele": "G", "start": 5833 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000556045.6:c.*154G>A" ], "proteinEffect": { "hgvs": "ENSP00000451041.2:n.*154G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS760149" }, { "coordinates": [ { "allele": "A", "end": 3182, "referenceAllele": "G", "start": 3181 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000675540.1:c.3182G>A" ], "proteinEffect": { "hgvs": "ENSP00000501988.1:n.3182G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775344" }, { "coordinates": [ { "allele": "A", "end": 5597, "referenceAllele": "G", "start": 5596 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000675995.1:c.*3753G>A" ], "proteinEffect": { "hgvs": "ENSP00000502591.1:n.*3753G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775738" }, { "coordinates": [ { "allele": "A", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000343455.7:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000343745.3:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000343745.3:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS261767" }, { "coordinates": [ { "allele": "A", "end": 5619, "referenceAllele": "G", "start": 5618 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000393063.5:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000376783.1:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000376783.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS275432" }, { "coordinates": [ { "allele": "A", "end": 5729, "referenceAllele": "G", "start": 5728 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000526495.5:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000437256.1:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000437256.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS352351" }, { "coordinates": [ { "allele": "A", "end": 5670, "referenceAllele": "G", "start": 5669 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000527414.5:c.5437G>A" ], "proteinEffect": { "hgvs": "ENSP00000435681.1:p.Glu1813Lys", "hgvsWellDefined": "ENSP00000435681.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS353123" }, { "coordinates": [ { "allele": "A", "end": 30, "referenceAllele": "G", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000527416.2:n.30G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353125" }, { "coordinates": [ { "allele": "A", "end": 130, "referenceAllele": "G", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000527554.2:n.130G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353238" }, { "coordinates": [ { "allele": "A", "end": 5373, "endIntronDirection": "-", "endIntronOffset": 183, "referenceAllele": "G", "start": 5373, "startIntronDirection": "-", "startIntronOffset": 184 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000541352.5:c.5365-184G>A" ], "proteinEffect": { "hgvs": "ENSP00000444719.1:n.5365-184G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS362881" }, { "coordinates": [ { "allele": "A", "end": 2414, "referenceAllele": "G", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000556045.5:c.2131G>A" ], "proteinEffect": { "hgvs": "ENSP00000451041.1:p.Glu711Lys", "hgvsWellDefined": "ENSP00000451041.1:p.Glu711Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS371918" }, { "coordinates": [ { "allele": "A", "end": 5409, "endIntronDirection": "-", "endIntronOffset": 183, "referenceAllele": "G", "start": 5409, "startIntronDirection": "-", "startIntronOffset": 184 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001195573.1:c.5365-184G>A" ], "proteinEffect": { "hgvs": "NP_001182502.1:n.5365-184G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS016633" }, { "@id": "http://reg.genome.network/allele/PA2826514716", "coordinates": [ { "allele": "A", "end": 5670, "referenceAllele": "G", "start": 5669 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001271282.2:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001258211.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001258211.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020518" }, { "@id": "http://reg.genome.network/allele/PA2826805750", "coordinates": [ { "allele": "A", "end": 5558, "referenceAllele": "G", "start": 5557 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001291628.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001278557.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001278557.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS024280" }, { "@id": "http://reg.genome.network/allele/PA2830044746", "coordinates": [ { "allele": "A", "end": 5729, "referenceAllele": "G", "start": 5728 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_030621.4:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_085124.2:p.Glu1813Lys", "hgvsWellDefined": "NP_085124.2:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS038344" }, { "@id": "http://reg.genome.network/allele/PA1139756493", "coordinates": [ { "allele": "A", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_177438.2:c.5437G>A", "LRG_492t1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_803187.1:p.Glu1813Lys", "hgvsWellDefined": "NP_803187.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS043345" }, { "coordinates": [ { "allele": "A", "end": 5861, "referenceAllele": "G", "start": 5860 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536599.1:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534901.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534901.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS103584" }, { "coordinates": [ { "allele": "A", "end": 5673, "referenceAllele": "G", "start": 5672 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536600.1:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534902.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534902.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS103585" }, { "coordinates": [ { "allele": "A", "end": 5900, "referenceAllele": "G", "start": 5899 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536601.1:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534903.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534903.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS103586" }, { "coordinates": [ { "allele": "A", "end": 5791, "referenceAllele": "G", "start": 5790 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536602.1:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534904.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534904.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS103587" }, { "coordinates": [ { "allele": "A", "end": 5752, "referenceAllele": "G", "start": 5751 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536603.1:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534905.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534905.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS103588" }, { "coordinates": [ { "allele": "A", "end": 5557, "referenceAllele": "G", "start": 5556 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536604.1:c.5032G>A" ], "proteinEffect": { "hgvs": "XP_011534906.1:p.Glu1678Lys", "hgvsWellDefined": "XP_011534906.1:p.Glu1678Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS103589" }, { "coordinates": [ { "allele": "A", "end": 5003, "referenceAllele": "G", "start": 5002 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536605.1:c.3958G>A" ], "proteinEffect": { "hgvs": "XP_011534907.1:p.Glu1320Lys", "hgvsWellDefined": "XP_011534907.1:p.Glu1320Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS103590" }, { "coordinates": [ { "allele": "A", "end": 6683, "referenceAllele": "G", "start": 6682 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536599.2:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534901.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534901.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS552556" }, { "coordinates": [ { "allele": "A", "end": 6522, "referenceAllele": "G", "start": 6521 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536600.3:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534902.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534902.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS552557" }, { "coordinates": [ { "allele": "A", "end": 5880, "referenceAllele": "G", "start": 5879 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536601.3:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534903.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534903.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS552558" }, { "coordinates": [ { "allele": "A", "end": 5771, "referenceAllele": "G", "start": 5770 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536602.3:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_011534904.1:p.Glu1813Lys", "hgvsWellDefined": "XP_011534904.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS552559" }, { "coordinates": [ { "allele": "A", "end": 5557, "referenceAllele": "G", "start": 5556 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536604.2:c.5032G>A" ], "proteinEffect": { "hgvs": "XP_011534906.1:p.Glu1678Lys", "hgvsWellDefined": "XP_011534906.1:p.Glu1678Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS552560" }, { "coordinates": [ { "allele": "A", "end": 10362, "referenceAllele": "G", "start": 10361 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536605.2:c.3958G>A" ], "proteinEffect": { "hgvs": "XP_011534907.1:p.Glu1320Lys", "hgvsWellDefined": "XP_011534907.1:p.Glu1320Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS552561" }, { "coordinates": [ { "allele": "A", "end": 6073, "referenceAllele": "G", "start": 6072 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021120.2:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_016876609.1:p.Glu1813Lys", "hgvsWellDefined": "XP_016876609.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS572427" }, { "coordinates": [ { "allele": "A", "end": 6355, "referenceAllele": "G", "start": 6354 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021121.2:c.5437G>A" ], "proteinEffect": { "hgvs": "XP_016876610.1:p.Glu1813Lys", "hgvsWellDefined": "XP_016876610.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS572428" }, { "coordinates": [ { "allele": "A", "end": 6552, "referenceAllele": "G", "start": 6551 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021122.2:c.5032G>A" ], "proteinEffect": { "hgvs": "XP_016876611.1:p.Glu1678Lys", "hgvsWellDefined": "XP_016876611.1:p.Glu1678Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS572429" }, { "coordinates": [ { "allele": "A", "end": 5942, "referenceAllele": "G", "start": 5941 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021123.2:c.5032G>A" ], "proteinEffect": { "hgvs": "XP_016876612.1:p.Glu1678Lys", "hgvsWellDefined": "XP_016876612.1:p.Glu1678Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS572430" }, { "@id": "http://reg.genome.network/allele/PA2826514716", "coordinates": [ { "allele": "A", "end": 5661, "referenceAllele": "G", "start": 5660 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001271282.3:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001258211.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001258211.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681127" }, { "@id": "http://reg.genome.network/allele/PA2826805750", "coordinates": [ { "allele": "A", "end": 5558, "referenceAllele": "G", "start": 5557 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001291628.2:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001278557.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001278557.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS716707" }, { "@id": "http://reg.genome.network/allele/PA1139756493", "coordinates": [ { "allele": "A", "end": 5782, "referenceAllele": "G", "start": 5781 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_177438.3:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_803187.1:p.Glu1813Lys", "hgvsWellDefined": "NP_803187.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS729648", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343455.8:c.5437G>A" }, "RefSeq": { "hgvs": "NM_177438.3:c.5437G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343745.3:p.Glu1813Lys" }, "RefSeq": { "hgvs": "NP_803187.1:p.Glu1813Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 5832, "referenceAllele": "G", "start": 5831 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395677.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001382606.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001382606.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782952" }, { "coordinates": [ { "allele": "A", "end": 5621, "referenceAllele": "G", "start": 5620 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395678.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001382607.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001382607.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782953" }, { "coordinates": [ { "allele": "A", "end": 5949, "referenceAllele": "G", "start": 5948 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395679.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001382608.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001382608.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782954" }, { "coordinates": [ { "allele": "A", "end": 5788, "referenceAllele": "G", "start": 5787 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395680.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001382609.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001382609.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782955" }, { "coordinates": [ { "allele": "A", "end": 6092, "referenceAllele": "G", "start": 6091 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395682.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001382611.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001382611.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782956" }, { "coordinates": [ { "allele": "A", "end": 5883, "referenceAllele": "G", "start": 5882 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395683.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001382612.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001382612.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782957" }, { "coordinates": [ { "allele": "A", "end": 5925, "referenceAllele": "G", "start": 5924 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395684.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001382613.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001382613.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782958" }, { "coordinates": [ { "allele": "A", "end": 5782, "referenceAllele": "G", "start": 5781 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395685.1:c.5437G>A" ], "proteinEffect": { "hgvs": "NP_001382614.1:p.Glu1813Lys", "hgvsWellDefined": "NP_001382614.1:p.Glu1813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782959" }, { "coordinates": [ { "allele": "A", "end": 5774, "referenceAllele": "G", "start": 5773 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395686.1:c.5155G>A" ], "proteinEffect": { "hgvs": "NP_001382615.1:p.Glu1719Lys", "hgvsWellDefined": "NP_001382615.1:p.Glu1719Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782960" }, { "coordinates": [ { "allele": "A", "end": 5462, "referenceAllele": "G", "start": 5461 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395687.1:c.5032G>A" ], "proteinEffect": { "hgvs": "NP_001382616.1:p.Glu1678Lys", "hgvsWellDefined": "NP_001382616.1:p.Glu1678Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782961" }, { "coordinates": [ { "allele": "A", "end": 5818, "referenceAllele": "G", "start": 5817 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395688.1:c.5032G>A" ], "proteinEffect": { "hgvs": "NP_001382617.1:p.Glu1678Lys", "hgvsWellDefined": "NP_001382617.1:p.Glu1678Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782962" }, { "coordinates": [ { "allele": "A", "end": 5651, "referenceAllele": "G", "start": 5650 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395689.1:c.5032G>A" ], "proteinEffect": { "hgvs": "NP_001382618.1:p.Glu1678Lys", "hgvsWellDefined": "NP_001382618.1:p.Glu1678Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782963" }, { "coordinates": [ { "allele": "A", "end": 5657, "referenceAllele": "G", "start": 5656 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395690.1:c.5032G>A" ], "proteinEffect": { "hgvs": "NP_001382619.1:p.Glu1678Lys", "hgvsWellDefined": "NP_001382619.1:p.Glu1678Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782964" }, { "coordinates": [ { "allele": "A", "end": 5673, "referenceAllele": "G", "start": 5672 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395691.1:c.4870G>A" ], "proteinEffect": { "hgvs": "NP_001382620.1:p.Glu1624Lys", "hgvsWellDefined": "NP_001382620.1:p.Glu1624Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782965" }, { "coordinates": [ { "allele": "A", "end": 5834, "referenceAllele": "G", "start": 5833 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395697.1:c.3754G>A" ], "proteinEffect": { "hgvs": "NP_001382626.1:p.Glu1252Lys", "hgvsWellDefined": "NP_001382626.1:p.Glu1252Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS782971" }, { "coordinates": [ { "allele": "A", "end": 5855, "referenceAllele": "G", "start": 5854 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172715.1:n.5855G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784610" }, { "coordinates": [ { "allele": "A", "end": 6039, "referenceAllele": "G", "start": 6038 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172716.1:n.6039G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784611" }, { "coordinates": [ { "allele": "A", "end": 5949, "referenceAllele": "G", "start": 5948 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172717.1:n.5949G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784612" }, { "coordinates": [ { "allele": "A", "end": 5872, "referenceAllele": "G", "start": 5871 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172718.1:n.5872G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784613" }, { "coordinates": [ { "allele": "A", "end": 5705, "referenceAllele": "G", "start": 5704 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172719.1:n.5705G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784614" }, { "coordinates": [ { "allele": "A", "end": 5908, "referenceAllele": "G", "start": 5907 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172720.1:n.5908G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784615" } ], "type": "nucleotide" }