{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388453132", "communityStandardTitle": [ "NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535276[alleleid]", "alleleId": 535276, "preferredName": "NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545012", "RCV": [ "RCV000721946" ], "variationId": 545012 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.78492652G>T?assembly=hg19", "id": "chr13:g.78492652G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.77918517G>T?assembly=hg38", "id": "chr13:g.77918517G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/768126403", "rs": 768126403 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-77918517-G-T?dataset=gnomad_r4", "id": "13-77918517-G-T", "variant": "13:77918517 G / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 77918517, "referenceAllele": "G", "start": 77918516 } ], "hgvs": [ "NC_000013.11:g.77918517G>T", "CM000675.2:g.77918517G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 78492652, "referenceAllele": "G", "start": 78492651 } ], "hgvs": [ "NC_000013.10:g.78492652G>T", "CM000675.1:g.78492652G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 77390653, "referenceAllele": "G", "start": 77390652 } ], "hgvs": [ "NC_000013.9:g.77390653G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 62013, "referenceAllele": "C", "start": 62012 } ], "hgvs": [ "NG_011630.2:g.62013C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001865" }, { "coordinates": [ { "allele": "A", "end": 61207, "referenceAllele": "C", "start": 61206 } ], "hgvs": [ "NG_011630.3:g.61207C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706102" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000475537.2:c.57C>A" ], "proteinEffect": { "hgvs": "ENSP00000487082.2:p.Cys19Ter", "hgvsWellDefined": "ENSP00000487082.2:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757157" }, { "coordinates": [ { "allele": "A", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000643890.1:c.57C>A" ], "proteinEffect": { "hgvs": "ENSP00000495815.1:p.Cys19Ter", "hgvsWellDefined": "ENSP00000495815.1:p.Cys19_Leu409delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysValArgAspTyrProLysIleLysSerSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767527" }, { "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000646605.1:c.57C>A" ], "proteinEffect": { "hgvs": "ENSP00000494278.1:p.Cys19Ter", "hgvsWellDefined": "ENSP00000494278.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768968" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000646607.2:c.57C>A" ], "proteinEffect": { "hgvs": "ENSP00000493527.1:p.Cys19Ter", "hgvsWellDefined": "ENSP00000493527.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768969", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646607.2:c.57C>A" }, "RefSeq": { "hgvs": "NM_001122659.3:c.57C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493527.1:p.Cys19Ter" }, "RefSeq": { "hgvs": "NP_001116131.1:p.Cys19Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000646948.1:c.57C>A" ], "proteinEffect": { "hgvs": "ENSP00000493895.1:p.Cys19Ter", "hgvsWellDefined": "ENSP00000493895.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769153" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000334286.7:c.57C>A" ], "proteinEffect": { "hgvs": "ENSP00000335311.5:p.Cys19Ter", "hgvsWellDefined": "ENSP00000335311.5:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259877" }, { "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000377211.8:c.327C>A" ], "proteinEffect": { "hgvs": "ENSP00000366416.4:p.Cys109Ter", "hgvsWellDefined": "ENSP00000366416.4:p.Cys109_Ser532delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271513" }, { "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000475537.1:c.57C>A" ], "proteinEffect": { "hgvs": "ENSP00000487082.1:p.Cys19Ter", "hgvsWellDefined": "ENSP00000487082.1:p.Cys19Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS316800" }, { "coordinates": [ { "allele": "A", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "ENST00000626030.1:c.57C>A" ], "proteinEffect": { "hgvs": "ENSP00000486202.1:p.Cys19Ter", "hgvsWellDefined": "ENSP00000486202.1:p.Cys19_Asn436delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysAlaGlyProHisValGlyAsnLysLeuValMetLeuPheSerValAsnIleGluCysAspGlyThrValAsnGlnAsnProThrMetTrpProGluArgLysSerAsnAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406673" }, { "@id": "http://reg.genome.network/allele/PA891863173", "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "NM_000115.3:c.57C>A" ], "proteinEffect": { "hgvs": "NP_000106.1:p.Cys19Ter", "hgvsWellDefined": "NP_000106.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006177" }, { "@id": "http://reg.genome.network/allele/PA2825584854", "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "NM_001122659.2:c.57C>A" ], "proteinEffect": { "hgvs": "NP_001116131.1:p.Cys19Ter", "hgvsWellDefined": "NP_001116131.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011386" }, { "@id": "http://reg.genome.network/allele/PA2826253629", "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "NM_001201397.1:c.327C>A" ], "proteinEffect": { "hgvs": "NP_001188326.1:p.Cys109Ter", "hgvsWellDefined": "NP_001188326.1:p.Cys109_Ser532delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017331" }, { "@id": "http://reg.genome.network/allele/PA915998338", "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "NM_003991.3:c.57C>A" ], "proteinEffect": { "hgvs": "NP_003982.1:p.Cys19Ter", "hgvsWellDefined": "NP_003982.1:p.Cys19_Asn436delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysAlaGlyProHisValGlyAsnLysLeuValMetLeuPheSerValAsnIleGluCysAspGlyThrValAsnGlnAsnProThrMetTrpProGluArgLysSerAsnAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029192" }, { "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "C", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "XM_005266275.2:c.57C>A" ], "proteinEffect": { "hgvs": "XP_005266332.2:p.Cys19Ter", "hgvsWellDefined": "XP_005266332.2:p.Cys19_His336delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnLeuSerValGlyIleGlyLeuTyrTrpTyrGlnHisGlyPheThrGluPheLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064978" }, { "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "XM_011534949.1:c.57C>A" ], "proteinEffect": { "hgvs": "XP_011533251.1:p.Cys19Ter", "hgvsWellDefined": "XP_011533251.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101960" }, { "@id": "http://reg.genome.network/allele/PA891863173", "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "NM_000115.4:c.57C>A" ], "proteinEffect": { "hgvs": "NP_000106.1:p.Cys19Ter", "hgvsWellDefined": "NP_000106.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510752" }, { "@id": "http://reg.genome.network/allele/PA2825584854", "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "NM_001122659.3:c.57C>A" ], "proteinEffect": { "hgvs": "NP_001116131.1:p.Cys19Ter", "hgvsWellDefined": "NP_001116131.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663528", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646607.2:c.57C>A" }, "RefSeq": { "hgvs": "NM_001122659.3:c.57C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493527.1:p.Cys19Ter" }, "RefSeq": { "hgvs": "NP_001116131.1:p.Cys19Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA891863173", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "NM_000115.5:c.57C>A" ], "proteinEffect": { "hgvs": "NP_000106.1:p.Cys19Ter", "hgvsWellDefined": "NP_000106.1:p.Cys19_Ser442delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674708" }, { "@id": "http://reg.genome.network/allele/PA915998338", "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN003180", "geneNCBI_id": 1910, "geneSymbol": "EDNRB", "hgvs": [ "NM_003991.4:c.57C>A" ], "proteinEffect": { "hgvs": "NP_003982.1:p.Cys19Ter", "hgvsWellDefined": "NP_003982.1:p.Cys19_Asn436delinsGlyLeuSerArgIleTrpGlyGluGluArgGlyPheProProAspArgAlaThrProLeuLeuGlnThrAlaGluIleMetThrProProThrLysThrLeuTrpProLysGlySerAsnAlaSerLeuAlaArgSerLeuAlaProAlaGluValProLysGlyAspArgThrAlaGlySerProProArgThrIleSerProProProCysGlnGlyProIleGluIleLysGluThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysAlaGlyProHisValGlyAsnLysLeuValMetLeuPheSerValAsnIleGluCysAspGlyThrValAsnGlnAsnProThrMetTrpProGluArgLysSerAsnAsnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696010" } ], "type": "nucleotide" }