{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA395113027", "communityStandardTitle": [ "NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2742333[alleleid]", "alleleId": 2742333, "preferredName": "NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2577438", "RCV": [ "RCV003324626" ], "variationId": 2577438 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.23360004G>A?assembly=hg19", "id": "chr16:g.23360004G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.23348683G>A?assembly=hg38", "id": "chr16:g.23348683G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1962240610", "rs": 1962240610 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-23348683-G-A?dataset=gnomad_r4", "id": "16-23348683-G-A", "variant": "16:23348683 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 23348683, "referenceAllele": "G", "start": 23348682 } ], "hgvs": [ "NC_000016.10:g.23348683G>A", "CM000678.2:g.23348683G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 23360004, "referenceAllele": "G", "start": 23360003 } ], "hgvs": [ "NC_000016.9:g.23360004G>A", "CM000678.1:g.23360004G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 23267505, "referenceAllele": "G", "start": 23267504 } ], "hgvs": [ "NC_000016.8:g.23267505G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 51414, "referenceAllele": "G", "start": 51413 } ], "hgvs": [ "NG_011908.1:g.51414G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002056" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "ENST00000343070.7:c.84G>A" ], "proteinEffect": { "hgvs": "ENSP00000345751.2:p.Trp28Ter", "hgvsWellDefined": "ENSP00000345751.2:p.Trp28_Ile640delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748119", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343070.7:c.84G>A" }, "RefSeq": { "hgvs": "NM_000336.3:c.84G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345751.2:p.Trp28Ter" }, "RefSeq": { "hgvs": "NP_000327.2:p.Trp28Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "G", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "ENST00000307331.9:c.219G>A" ], "proteinEffect": { "hgvs": "ENSP00000302874.5:p.Trp73Ter", "hgvsWellDefined": "ENSP00000302874.5:p.Trp73_Ile685delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255870" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "ENST00000343070.6:c.84G>A" ], "proteinEffect": { "hgvs": "ENSP00000345751.2:p.Trp28Ter", "hgvsWellDefined": "ENSP00000345751.2:p.Trp28_Ile640delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261688" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "ENST00000564275.5:c.84G>A" ], "proteinEffect": { "hgvs": "ENSP00000457754.1:p.Trp28Ter", "hgvsWellDefined": "ENSP00000457754.1:p.Trp28_Arg296delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgProGluValAspProGlyHisArgProGlyArgLeuArgProLeuProCysValHisGlyArgGlyGlnAlaAspAlaSerArgAlaGluValIleProLeuHisGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377980" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "ENST00000568085.5:c.84G>A" ], "proteinEffect": { "hgvs": "ENSP00000455673.1:p.Trp28Ter", "hgvsWellDefined": "ENSP00000455673.1:p.Trp28_Ile604delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380542" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "ENST00000568923.5:c.84G>A" ], "proteinEffect": { "hgvs": "ENSP00000456309.1:p.Trp28Ter", "hgvsWellDefined": "ENSP00000456309.1:p.Trp28_Ile613delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381118" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "G", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "ENST00000569789.1:n.270G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381711" }, { "@id": "http://reg.genome.network/allele/PA2825132985", "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "NM_000336.2:c.84G>A" ], "proteinEffect": { "hgvs": "NP_000327.2:p.Trp28Ter", "hgvsWellDefined": "NP_000327.2:p.Trp28_Ile640delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006399" }, { "coordinates": [ { "allele": "A", "end": 255, "referenceAllele": "G", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "XM_011545913.1:c.117G>A" ], "proteinEffect": { "hgvs": "XP_011544215.1:p.Trp39Ter", "hgvsWellDefined": "XP_011544215.1:p.Trp39_Ile651delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112796" }, { "coordinates": [ { "allele": "A", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "XM_011545914.1:c.102G>A" ], "proteinEffect": { "hgvs": "XP_011544216.1:p.Trp34Ter", "hgvsWellDefined": "XP_011544216.1:p.Trp34_Ile646delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112797" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "XM_011545913.2:c.117G>A" ], "proteinEffect": { "hgvs": "XP_011544215.1:p.Trp39Ter", "hgvsWellDefined": "XP_011544215.1:p.Trp39_Ile651delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556304" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "G", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "XM_017023525.1:c.141G>A" ], "proteinEffect": { "hgvs": "XP_016879014.1:p.Trp47Ter", "hgvsWellDefined": "XP_016879014.1:p.Trp47_Ile659delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574270" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "G", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "XM_017023526.1:c.141G>A" ], "proteinEffect": { "hgvs": "XP_016879015.1:p.Trp47Ter", "hgvsWellDefined": "XP_016879015.1:p.Trp47_Ile623delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574271" }, { "@id": "http://reg.genome.network/allele/PA2825132985", "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN010600", "geneNCBI_id": 6338, "geneSymbol": "SCNN1B", "hgvs": [ "NM_000336.3:c.84G>A" ], "proteinEffect": { "hgvs": "NP_000327.2:p.Trp28Ter", "hgvsWellDefined": "NP_000327.2:p.Trp28_Ile640delinsTyrCysAspAsnThrAsnThrHisGlyProLysArgIleIleCysGluGlyProLysLysLysAlaMetTrpPheLeuLeuThrLeuLeuPheAlaAlaLeuValCysTrpGlnTrpGlyIlePheIleArgThrTyrLeuSerTrpGluValSerValSerLeuSerValGlyPheLysThrMetAspPheProAlaValThrIleCysAsnAlaSerProPheLysTyrSerLysIleLysHisLeuLeuLysAspLeuAspGluLeuMetGluAlaValLeuGluArgIleLeuAlaProGluLeuSerHisAlaAsnAlaThrArgAsnLeuAsnPheSerIleTrpAsnHisThrProLeuValLeuIleAspGluArgAsnProHisHisProMetValLeuAspLeuPheGlyAspAsnHisAsnGlyLeuThrSerSerSerAlaSerGluLysIleCysAsnAlaHisGlyCysLysMetAlaMetArgLeuCysSerLeuAsnArgThrGlnCysThrPheArgAsnPheThrSerAlaThrGlnAlaLeuThrGluTrpTyrIleLeuGlnAlaThrAsnIlePheAlaGlnValProGlnGlnGluLeuValGluMetSerTyrProGlyGluGlnMetIleLeuAlaCysLeuPheGlyAlaGluProCysAsnTyrArgAsnPheThrSerIlePheTyrProHisTyrGlyAsnCysTyrIlePheAsnTrpGlyMetThrGluLysAlaLeuProSerAlaAsnProGlyThrGluPheGlyLeuLysLeuIleLeuAspIleGlyGlnGluAspTyrValProPheLeuAlaSerThrAlaGlyValArgLeuMetLeuHisGluGlnArgSerTyrProPheIleArgAspGluGlyIleTyrAlaMetSerGlyThrGluThrSerIleGlyValLeuValAspLysLeuGlnArgMetGlyGluProTyrSerProCysThrValAsnGlySerGluValProValGlnAsnPheTyrSerAspTyrAsnThrThrTyrSerIleGlnAlaCysLeuArgSerCysPheGlnAspHisMetIleArgAsnCysAsnCysGlyHisTyrLeuTyrProLeuProArgGlyGluLysTyrCysAsnAsnArgAspPheProAspTrpAlaHisCysTyrSerAspLeuGlnMetSerValAlaGlnArgGluThrCysIleGlyMetCysLysGluSerCysAsnAspThrGlnTyrLysMetThrIleSerMetAlaAspTrpProSerGluAlaSerGluAspTrpIlePheHisValLeuSerGlnGluArgAspGlnSerThrAsnIleThrLeuSerArgLysGlyIleValLysLeuAsnIleTyrPheGlnGluPheAsnTyrArgThrIleGluGluSerAlaAlaAsnAsnIleValTrpLeuLeuSerAsnLeuGlyGlyGlnPheGlyPheTrpMetGlyGlySerValLeuCysLeuIleGluPheGlyGluIleIleIleAspPheValTrpIleThrIleIleLysLeuValAlaLeuAlaLysSerLeuArgGlnArgArgAlaGlnAlaSerTyrAlaGlyProProProThrValAlaGluLeuValGluAlaHisThrAsnPheGlyPheGlnProAspThrAlaProArgSerProAsnThrGlyProTyrProSerGluGlnAlaLeuProIleProGlyThrProProProAsnTyrAspSerLeuArgLeuGlnProLeuAspValIleGluSerAspSerGluGlyAspAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662406", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000343070.7:c.84G>A" }, "RefSeq": { "hgvs": "NM_000336.3:c.84G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345751.2:p.Trp28Ter" }, "RefSeq": { "hgvs": "NP_000327.2:p.Trp28Ter" } } } } ], "type": "nucleotide" }