{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7330663", "communityStandardTitle": [ "NM_177438.3(DICER1):c.5428G>A (p.Asp1810Asn)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1371843", "active": true, "id": "COSM1371843" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=921296[alleleid]", "alleleId": 921296, "preferredName": "NM_177438.3(DICER1):c.5428G>A (p.Asp1810Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/933082", "RCV": [ "RCV001201093" ], "variationId": 933082 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-95557639-C-T", "id": "14-95557639-C-T", "variant": "14:95557639 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.95557639C>T?assembly=hg19", "id": "chr14:g.95557639C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.95091302C>T?assembly=hg38", "id": "chr14:g.95091302C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/775912475", "rs": 775912475 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-95557639-C-T?dataset=gnomad_r2_1", "id": "14-95557639-C-T", "variant": "14:95557639 C / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 95091302, "referenceAllele": "C", "start": 95091301 } ], "hgvs": [ "NC_000014.9:g.95091302C>T", "CM000676.2:g.95091302C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 95557639, "referenceAllele": "C", "start": 95557638 } ], "hgvs": [ "NC_000014.8:g.95557639C>T", "CM000676.1:g.95557639C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94627392, "referenceAllele": "C", "start": 94627391 } ], "hgvs": [ "NC_000014.7:g.94627392C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 71121, "referenceAllele": "G", "start": 71120 } ], "hgvs": [ "NG_016311.1:g.71121G>A", "LRG_492:g.71121G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003089" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5763, "referenceAllele": "G", "start": 5762 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000529720.2:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000433926.2:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000433926.2:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS905696" }, { "coordinates": [ { "allele": "A", "end": 5857, "referenceAllele": "G", "start": 5856 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000531162.7:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000433060.3:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000433060.3:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS905712" }, { "coordinates": [ { "allele": "A", "end": 5872, "referenceAllele": "G", "start": 5871 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000674628.2:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000502730.2:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000502730.2:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS906551" }, { "coordinates": [ { "allele": "A", "end": 5760, "referenceAllele": "G", "start": 5759 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000675540.2:c.*2078G>A" ], "proteinEffect": { "hgvs": "ENSP00000501988.2:n.*2078G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS906552" }, { "coordinates": [ { "allele": "A", "end": 5671, "referenceAllele": "G", "start": 5670 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696733.1:c.*50G>A" ], "proteinEffect": { "hgvs": "ENSP00000512838.1:n.*50G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908178" }, { "coordinates": [ { "allele": "A", "end": 5746, "referenceAllele": "G", "start": 5745 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696734.1:c.*83G>A" ], "proteinEffect": { "hgvs": "ENSP00000512839.1:n.*83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908179" }, { "coordinates": [ { "allele": "A", "end": 2415, "referenceAllele": "G", "start": 2414 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696735.1:n.2415G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908180" }, { "coordinates": [ { "allele": "A", "end": 5837, "referenceAllele": "G", "start": 5836 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696736.1:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000512840.1:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000512840.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS908181" }, { "coordinates": [ { "allele": "A", "end": 5691, "referenceAllele": "G", "start": 5690 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696920.1:n.5691G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908356" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "G", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696921.1:n.6534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908357" }, { "coordinates": [ { "allele": "A", "end": 8359, "referenceAllele": "G", "start": 8358 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696922.1:n.8359G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908358" }, { "coordinates": [ { "allele": "A", "end": 5862, "referenceAllele": "G", "start": 5861 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696923.1:c.*83G>A" ], "proteinEffect": { "hgvs": "ENSP00000512976.1:n.*83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908359" }, { "coordinates": [ { "allele": "A", "end": 5832, "referenceAllele": "G", "start": 5831 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696924.1:c.*50G>A" ], "proteinEffect": { "hgvs": "ENSP00000512977.1:n.*50G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908360" }, { "coordinates": [ { "allele": "A", "end": 8359, "referenceAllele": "G", "start": 8358 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000696925.1:n.8359G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908361" }, { "coordinates": [ { "allele": "A", "end": 5773, "referenceAllele": "G", "start": 5772 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000343455.8:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000343745.3:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000343745.3:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS748142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343455.8:c.5428G>A" }, "RefSeq": { "hgvs": "NM_177438.3:c.5428G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343745.3:p.Asp1810Asn" }, "RefSeq": { "hgvs": "NP_803187.1:p.Asp1810Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 5831, "referenceAllele": "G", "start": 5830 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000393063.6:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000376783.1:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000376783.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS753087" }, { "coordinates": [ { "allele": "A", "end": 5720, "referenceAllele": "G", "start": 5719 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000526495.6:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000437256.1:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000437256.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS758968" }, { "coordinates": [ { "allele": "A", "end": 5825, "referenceAllele": "G", "start": 5824 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000556045.6:c.*145G>A" ], "proteinEffect": { "hgvs": "ENSP00000451041.2:n.*145G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS760149" }, { "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000675540.1:c.3173G>A" ], "proteinEffect": { "hgvs": "ENSP00000501988.1:n.3173G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775344" }, { "coordinates": [ { "allele": "A", "end": 5588, "referenceAllele": "G", "start": 5587 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000675995.1:c.*3744G>A" ], "proteinEffect": { "hgvs": "ENSP00000502591.1:n.*3744G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775738" }, { "coordinates": [ { "allele": "A", "end": 5666, "referenceAllele": "G", "start": 5665 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000343455.7:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000343745.3:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000343745.3:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS261767" }, { "coordinates": [ { "allele": "A", "end": 5610, "referenceAllele": "G", "start": 5609 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000393063.5:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000376783.1:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000376783.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS275432" }, { "coordinates": [ { "allele": "A", "end": 5720, "referenceAllele": "G", "start": 5719 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000526495.5:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000437256.1:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000437256.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS352351" }, { "coordinates": [ { "allele": "A", "end": 5661, "referenceAllele": "G", "start": 5660 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000527414.5:c.5428G>A" ], "proteinEffect": { "hgvs": "ENSP00000435681.1:p.Asp1810Asn", "hgvsWellDefined": "ENSP00000435681.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS353123" }, { "coordinates": [ { "allele": "A", "end": 21, "referenceAllele": "G", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000527416.2:n.21G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353125" }, { "coordinates": [ { "allele": "A", "end": 121, "referenceAllele": "G", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000527554.2:n.121G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353238" }, { "coordinates": [ { "allele": "A", "end": 5373, "endIntronDirection": "-", "endIntronOffset": 192, "referenceAllele": "G", "start": 5373, "startIntronDirection": "-", "startIntronOffset": 193 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000541352.5:c.5365-193G>A" ], "proteinEffect": { "hgvs": "ENSP00000444719.1:n.5365-193G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS362881" }, { "coordinates": [ { "allele": "A", "end": 2405, "referenceAllele": "G", "start": 2404 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "ENST00000556045.5:c.2122G>A" ], "proteinEffect": { "hgvs": "ENSP00000451041.1:p.Asp708Asn", "hgvsWellDefined": "ENSP00000451041.1:p.Asp708Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS371918" }, { "coordinates": [ { "allele": "A", "end": 5409, "endIntronDirection": "-", "endIntronOffset": 192, "referenceAllele": "G", "start": 5409, "startIntronDirection": "-", "startIntronOffset": 193 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001195573.1:c.5365-193G>A" ], "proteinEffect": { "hgvs": "NP_001182502.1:n.5365-193G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS016633" }, { "@id": "http://reg.genome.network/allele/PA2826514697", "coordinates": [ { "allele": "A", "end": 5661, "referenceAllele": "G", "start": 5660 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001271282.2:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001258211.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001258211.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS020518" }, { "@id": "http://reg.genome.network/allele/PA2826805740", "coordinates": [ { "allele": "A", "end": 5549, "referenceAllele": "G", "start": 5548 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001291628.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001278557.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001278557.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS024280" }, { "@id": "http://reg.genome.network/allele/PA2830044734", "coordinates": [ { "allele": "A", "end": 5720, "referenceAllele": "G", "start": 5719 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_030621.4:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_085124.2:p.Asp1810Asn", "hgvsWellDefined": "NP_085124.2:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS038344" }, { "@id": "http://reg.genome.network/allele/PA1139756308", "coordinates": [ { "allele": "A", "end": 5666, "referenceAllele": "G", "start": 5665 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_177438.2:c.5428G>A", "LRG_492t1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_803187.1:p.Asp1810Asn", "hgvsWellDefined": "NP_803187.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS043345" }, { "coordinates": [ { "allele": "A", "end": 5852, "referenceAllele": "G", "start": 5851 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536599.1:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534901.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534901.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS103584" }, { "coordinates": [ { "allele": "A", "end": 5664, "referenceAllele": "G", "start": 5663 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536600.1:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534902.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534902.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS103585" }, { "coordinates": [ { "allele": "A", "end": 5891, "referenceAllele": "G", "start": 5890 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536601.1:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534903.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534903.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS103586" }, { "coordinates": [ { "allele": "A", "end": 5782, "referenceAllele": "G", "start": 5781 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536602.1:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534904.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534904.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS103587" }, { "coordinates": [ { "allele": "A", "end": 5743, "referenceAllele": "G", "start": 5742 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536603.1:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534905.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534905.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS103588" }, { "coordinates": [ { "allele": "A", "end": 5548, "referenceAllele": "G", "start": 5547 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536604.1:c.5023G>A" ], "proteinEffect": { "hgvs": "XP_011534906.1:p.Asp1675Asn", "hgvsWellDefined": "XP_011534906.1:p.Asp1675Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS103589" }, { "coordinates": [ { "allele": "A", "end": 4994, "referenceAllele": "G", "start": 4993 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536605.1:c.3949G>A" ], "proteinEffect": { "hgvs": "XP_011534907.1:p.Asp1317Asn", "hgvsWellDefined": "XP_011534907.1:p.Asp1317Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS103590" }, { "coordinates": [ { "allele": "A", "end": 6674, "referenceAllele": "G", "start": 6673 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536599.2:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534901.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534901.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS552556" }, { "coordinates": [ { "allele": "A", "end": 6513, "referenceAllele": "G", "start": 6512 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536600.3:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534902.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534902.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS552557" }, { "coordinates": [ { "allele": "A", "end": 5871, "referenceAllele": "G", "start": 5870 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536601.3:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534903.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534903.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS552558" }, { "coordinates": [ { "allele": "A", "end": 5762, "referenceAllele": "G", "start": 5761 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536602.3:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_011534904.1:p.Asp1810Asn", "hgvsWellDefined": "XP_011534904.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS552559" }, { "coordinates": [ { "allele": "A", "end": 5548, "referenceAllele": "G", "start": 5547 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536604.2:c.5023G>A" ], "proteinEffect": { "hgvs": "XP_011534906.1:p.Asp1675Asn", "hgvsWellDefined": "XP_011534906.1:p.Asp1675Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS552560" }, { "coordinates": [ { "allele": "A", "end": 10353, "referenceAllele": "G", "start": 10352 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_011536605.2:c.3949G>A" ], "proteinEffect": { "hgvs": "XP_011534907.1:p.Asp1317Asn", "hgvsWellDefined": "XP_011534907.1:p.Asp1317Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS552561" }, { "coordinates": [ { "allele": "A", "end": 6064, "referenceAllele": "G", "start": 6063 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021120.2:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_016876609.1:p.Asp1810Asn", "hgvsWellDefined": "XP_016876609.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS572427" }, { "coordinates": [ { "allele": "A", "end": 6346, "referenceAllele": "G", "start": 6345 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021121.2:c.5428G>A" ], "proteinEffect": { "hgvs": "XP_016876610.1:p.Asp1810Asn", "hgvsWellDefined": "XP_016876610.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS572428" }, { "coordinates": [ { "allele": "A", "end": 6543, "referenceAllele": "G", "start": 6542 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021122.2:c.5023G>A" ], "proteinEffect": { "hgvs": "XP_016876611.1:p.Asp1675Asn", "hgvsWellDefined": "XP_016876611.1:p.Asp1675Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS572429" }, { "coordinates": [ { "allele": "A", "end": 5933, "referenceAllele": "G", "start": 5932 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "XM_017021123.2:c.5023G>A" ], "proteinEffect": { "hgvs": "XP_016876612.1:p.Asp1675Asn", "hgvsWellDefined": "XP_016876612.1:p.Asp1675Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS572430" }, { "@id": "http://reg.genome.network/allele/PA2826514697", "coordinates": [ { "allele": "A", "end": 5652, "referenceAllele": "G", "start": 5651 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001271282.3:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001258211.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001258211.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS681127" }, { "@id": "http://reg.genome.network/allele/PA2826805740", "coordinates": [ { "allele": "A", "end": 5549, "referenceAllele": "G", "start": 5548 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001291628.2:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001278557.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001278557.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS716707" }, { "@id": "http://reg.genome.network/allele/PA1139756308", "coordinates": [ { "allele": "A", "end": 5773, "referenceAllele": "G", "start": 5772 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_177438.3:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_803187.1:p.Asp1810Asn", "hgvsWellDefined": "NP_803187.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS729648", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343455.8:c.5428G>A" }, "RefSeq": { "hgvs": "NM_177438.3:c.5428G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343745.3:p.Asp1810Asn" }, "RefSeq": { "hgvs": "NP_803187.1:p.Asp1810Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 5823, "referenceAllele": "G", "start": 5822 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395677.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001382606.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001382606.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782952" }, { "coordinates": [ { "allele": "A", "end": 5612, "referenceAllele": "G", "start": 5611 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395678.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001382607.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001382607.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782953" }, { "coordinates": [ { "allele": "A", "end": 5940, "referenceAllele": "G", "start": 5939 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395679.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001382608.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001382608.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782954" }, { "coordinates": [ { "allele": "A", "end": 5779, "referenceAllele": "G", "start": 5778 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395680.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001382609.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001382609.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782955" }, { "coordinates": [ { "allele": "A", "end": 6083, "referenceAllele": "G", "start": 6082 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395682.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001382611.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001382611.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782956" }, { "coordinates": [ { "allele": "A", "end": 5874, "referenceAllele": "G", "start": 5873 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395683.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001382612.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001382612.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782957" }, { "coordinates": [ { "allele": "A", "end": 5916, "referenceAllele": "G", "start": 5915 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395684.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001382613.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001382613.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782958" }, { "coordinates": [ { "allele": "A", "end": 5773, "referenceAllele": "G", "start": 5772 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395685.1:c.5428G>A" ], "proteinEffect": { "hgvs": "NP_001382614.1:p.Asp1810Asn", "hgvsWellDefined": "NP_001382614.1:p.Asp1810Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782959" }, { "coordinates": [ { "allele": "A", "end": 5765, "referenceAllele": "G", "start": 5764 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395686.1:c.5146G>A" ], "proteinEffect": { "hgvs": "NP_001382615.1:p.Asp1716Asn", "hgvsWellDefined": "NP_001382615.1:p.Asp1716Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782960" }, { "coordinates": [ { "allele": "A", "end": 5453, "referenceAllele": "G", "start": 5452 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395687.1:c.5023G>A" ], "proteinEffect": { "hgvs": "NP_001382616.1:p.Asp1675Asn", "hgvsWellDefined": "NP_001382616.1:p.Asp1675Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782961" }, { "coordinates": [ { "allele": "A", "end": 5809, "referenceAllele": "G", "start": 5808 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395688.1:c.5023G>A" ], "proteinEffect": { "hgvs": "NP_001382617.1:p.Asp1675Asn", "hgvsWellDefined": "NP_001382617.1:p.Asp1675Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782962" }, { "coordinates": [ { "allele": "A", "end": 5642, "referenceAllele": "G", "start": 5641 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395689.1:c.5023G>A" ], "proteinEffect": { "hgvs": "NP_001382618.1:p.Asp1675Asn", "hgvsWellDefined": "NP_001382618.1:p.Asp1675Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782963" }, { "coordinates": [ { "allele": "A", "end": 5648, "referenceAllele": "G", "start": 5647 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395690.1:c.5023G>A" ], "proteinEffect": { "hgvs": "NP_001382619.1:p.Asp1675Asn", "hgvsWellDefined": "NP_001382619.1:p.Asp1675Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782964" }, { "coordinates": [ { "allele": "A", "end": 5664, "referenceAllele": "G", "start": 5663 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395691.1:c.4861G>A" ], "proteinEffect": { "hgvs": "NP_001382620.1:p.Asp1621Asn", "hgvsWellDefined": "NP_001382620.1:p.Asp1621Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782965" }, { "coordinates": [ { "allele": "A", "end": 5825, "referenceAllele": "G", "start": 5824 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NM_001395697.1:c.3745G>A" ], "proteinEffect": { "hgvs": "NP_001382626.1:p.Asp1249Asn", "hgvsWellDefined": "NP_001382626.1:p.Asp1249Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS782971" }, { "coordinates": [ { "allele": "A", "end": 5846, "referenceAllele": "G", "start": 5845 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172715.1:n.5846G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784610" }, { "coordinates": [ { "allele": "A", "end": 6030, "referenceAllele": "G", "start": 6029 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172716.1:n.6030G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784611" }, { "coordinates": [ { "allele": "A", "end": 5940, "referenceAllele": "G", "start": 5939 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172717.1:n.5940G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784612" }, { "coordinates": [ { "allele": "A", "end": 5863, "referenceAllele": "G", "start": 5862 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172718.1:n.5863G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784613" }, { "coordinates": [ { "allele": "A", "end": 5696, "referenceAllele": "G", "start": 5695 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172719.1:n.5696G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784614" }, { "coordinates": [ { "allele": "A", "end": 5899, "referenceAllele": "G", "start": 5898 } ], "gene": "http://reg.genome.network/gene/GN017098", "geneNCBI_id": 23405, "geneSymbol": "DICER1", "hgvs": [ "NR_172720.1:n.5899G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784615" } ], "type": "nucleotide" }