{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA392313580", "communityStandardTitle": [ "NM_000338.3(SLC12A1):c.1874G>A (p.Trp625Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2945479[alleleid]", "alleleId": 2945479, "preferredName": "NM_000338.3(SLC12A1):c.1874G>A (p.Trp625Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2785632", "RCV": [ "RCV003664486" ], "variationId": 2785632 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48543899G>A?assembly=hg19", "id": "chr15:g.48543899G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48251702G>A?assembly=hg38", "id": "chr15:g.48251702G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2505099370", "rs": 2505099370 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48251702-G-A?dataset=gnomad_r4", "id": "15-48251702-G-A", "variant": "15:48251702 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 48251702, "referenceAllele": "G", "start": 48251701 } ], "hgvs": [ "NC_000015.10:g.48251702G>A", "CM000677.2:g.48251702G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 48543899, "referenceAllele": "G", "start": 48543898 } ], "hgvs": [ "NC_000015.9:g.48543899G>A", "CM000677.1:g.48543899G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 46331191, "referenceAllele": "G", "start": 46331190 } ], "hgvs": [ "NC_000015.8:g.46331191G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 50402, "referenceAllele": "G", "start": 50401 } ], "hgvs": [ "NG_021301.1:g.50402G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003546" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000686073.1:c.1874G>A" ], "proteinEffect": { "hgvs": "ENSP00000508901.1:p.Trp625Ter", "hgvsWellDefined": "ENSP00000508901.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830385" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000380993.8:c.1874G>A" ], "proteinEffect": { "hgvs": "ENSP00000370381.3:p.Trp625Ter", "hgvsWellDefined": "ENSP00000370381.3:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752470", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380993.8:c.1874G>A" }, "RefSeq": { "hgvs": "NM_000338.3:c.1874G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370381.3:p.Trp625Ter" }, "RefSeq": { "hgvs": "NP_000329.2:p.Trp625Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2404, "referenceAllele": "G", "start": 2403 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000646012.1:c.2012G>A" ], "proteinEffect": { "hgvs": "ENSP00000495813.1:p.Trp671Ter", "hgvsWellDefined": "ENSP00000495813.1:p.Trp672_Ser1145delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768651" }, { "coordinates": [ { "allele": "A", "end": 2383, "referenceAllele": "G", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000647232.1:c.1874G>A" ], "proteinEffect": { "hgvs": "ENSP00000493875.1:p.Trp625Ter", "hgvsWellDefined": "ENSP00000493875.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769300" }, { "coordinates": [ { "allele": "A", "end": 2232, "referenceAllele": "G", "start": 2231 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000647546.1:c.1874G>A" ], "proteinEffect": { "hgvs": "ENSP00000495332.1:p.Trp625Ter", "hgvsWellDefined": "ENSP00000495332.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769476" }, { "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000380993.7:c.1874G>A" ], "proteinEffect": { "hgvs": "ENSP00000370381.3:p.Trp625Ter", "hgvsWellDefined": "ENSP00000370381.3:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273173" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000396577.7:c.1874G>A" ], "proteinEffect": { "hgvs": "ENSP00000379822.3:p.Trp625Ter", "hgvsWellDefined": "ENSP00000379822.3:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277336" }, { "coordinates": [ { "allele": "A", "end": 5997, "referenceAllele": "G", "start": 5996 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000558252.5:n.5997G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373663" }, { "coordinates": [ { "allele": "A", "end": 1888, "referenceAllele": "G", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000558405.5:c.1874G>A" ], "proteinEffect": { "hgvs": "ENSP00000453409.1:p.Trp625Ter", "hgvsWellDefined": "ENSP00000453409.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373773" }, { "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "G", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000559641.5:c.1313G>A" ], "proteinEffect": { "hgvs": "ENSP00000453230.1:p.Trp438Ter", "hgvsWellDefined": "ENSP00000453230.1:p.Trp438Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS374743" }, { "coordinates": [ { "allele": "A", "end": 6013, "referenceAllele": "G", "start": 6012 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000560692.5:n.6013G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS375541" }, { "@id": "http://reg.genome.network/allele/PA119891", "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_000338.2:c.1874G>A" ], "proteinEffect": { "hgvs": "NP_000329.2:p.Trp625Ter", "hgvsWellDefined": "NP_000329.2:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006401" }, { "@id": "http://reg.genome.network/allele/PA915995932", "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001184832.1:c.1874G>A" ], "proteinEffect": { "hgvs": "NP_001171761.1:p.Trp625Ter", "hgvsWellDefined": "NP_001171761.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016002" }, { "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254605.1:c.1970G>A" ], "proteinEffect": { "hgvs": "XP_005254662.1:p.Trp657Ter", "hgvsWellDefined": "XP_005254662.1:p.Trp658_Ser1131delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060682" }, { "coordinates": [ { "allele": "A", "end": 2090, "referenceAllele": "G", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254606.1:c.1874G>A" ], "proteinEffect": { "hgvs": "XP_005254663.1:p.Trp625Ter", "hgvsWellDefined": "XP_005254663.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060683" }, { "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_006720656.1:c.1970G>A" ], "proteinEffect": { "hgvs": "XP_006720719.1:p.Trp657Ter", "hgvsWellDefined": "XP_006720719.1:p.Trp658_Pro1097delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuLeuArgGlyCysGlnSerGlnCysTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073748" }, { "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XR_931896.1:n.2186G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127969" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254606.2:c.1874G>A" ], "proteinEffect": { "hgvs": "XP_005254663.1:p.Trp625Ter", "hgvsWellDefined": "XP_005254663.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534145" }, { "@id": "http://reg.genome.network/allele/PA119891", "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_000338.3:c.1874G>A" ], "proteinEffect": { "hgvs": "NP_000329.2:p.Trp625Ter", "hgvsWellDefined": "NP_000329.2:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380993.8:c.1874G>A" }, "RefSeq": { "hgvs": "NM_000338.3:c.1874G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370381.3:p.Trp625Ter" }, "RefSeq": { "hgvs": "NP_000329.2:p.Trp625Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915995932", "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001184832.2:c.1874G>A" ], "proteinEffect": { "hgvs": "NP_001171761.1:p.Trp625Ter", "hgvsWellDefined": "NP_001171761.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679016" }, { "@id": "http://reg.genome.network/allele/PA2741882266", "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001384136.1:c.1874G>A" ], "proteinEffect": { "hgvs": "NP_001371065.1:p.Trp625Ter", "hgvsWellDefined": "NP_001371065.1:p.Trp626_Ser1099delinsAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722663" } ], "type": "nucleotide" }