{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA272476", "communityStandardTitle": [ "NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169120[alleleid]", "alleleId": 169120, "preferredName": "NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159897", "RCV": [ "RCV000147487", "RCV001385770" ], "variationId": 159897 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-34553159-C-A", "id": "15-34553159-C-A", "variant": "15:34553159 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.34553159C>A?assembly=hg19", "id": "chr15:g.34553159C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.34260958C>A?assembly=hg38", "id": "chr15:g.34260958C>A" } ], "dbSNP": [ { "@id": 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"ENSP00000452904.1:p.Glu68_Leu942delinsTyrPheAspLysAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrProGlnMetGlyThrPheMetGlyValTyrLeuProCysLeuGlnAsnIlePheGlyValIleLeuPheLeuArgLeuThrTrpValValGlyThrAlaGlyValLeuGlnAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetValArgLysLeuSerLeuArgTyrLysSerMetThrValIleTyrGlnHisIleLeuThrSerAlaLeuTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS374763" }, { "coordinates": [ { "allele": "T", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560164.5:c.-39G>T" ], "proteinEffect": { "hgvs": "ENSP00000452705.1:n.-39G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS375147" }, { "coordinates": [ { "allele": "T", "end": 131, "referenceAllele": "G", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560332.1:c.-39G>T" ], "proteinEffect": { "hgvs": "ENSP00000454037.1:n.-39G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS375273" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560611.5:c.379G>T" ], "proteinEffect": { "hgvs": "ENSP00000454168.1:p.Glu127Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS375479" }, { "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000561080.5:c.379G>T" ], "proteinEffect": { "hgvs": "ENSP00000454069.1:p.Glu127Ter", "hgvsWellDefined": "ENSP00000454069.1:p.Glu127_Tyr906delinsTyrPheAspLysAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrProGlnMetGlyThrPheMetGlyValTyrLeuProCysLeuGlnAsnIlePheGlyValIleLeuPheLeuArgLeuThrTrpValValGlyThrAlaGlyValLeuGlnAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleAlaMetTrpSerAsnPheLeuArgAlaThrLeuMetCysGlyGlyLeuCysMetMetGlyGlyCysLeuCysTyrTyrHisSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375838" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "G", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000561120.5:c.352G>T" ], "proteinEffect": { "hgvs": "ENSP00000452771.1:p.Glu118Ter", "hgvsWellDefined": "ENSP00000452771.1:p.Glu118_Gln152del" }, "referenceSequence": "http://reg.genome.network/refseq/RS375868" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "G", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042494.1:c.202G>T" ], "proteinEffect": { "hgvs": "NP_001035959.1:p.Glu68Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS009723" }, { "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042495.1:c.202G>T" ], "proteinEffect": { "hgvs": "NP_001035960.1:p.Glu68Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS009724" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042496.1:c.352G>T" ], "proteinEffect": { "hgvs": "NP_001035961.1:p.Glu118Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS009725" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "G", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042497.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001035962.1:p.Glu112Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS009726" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_005135.2:c.226G>T", "LRG_270t1:c.226G>T" ], "proteinEffect": { "hgvs": "NP_005126.1:p.Glu76Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS030257" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.1:c.379G>T", "LRG_270t2:c.379G>T" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Glu127Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS040581" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "G", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.2:c.379G>T" ], "proteinEffect": { "hgvs": "XP_006720856.1:p.Glu127Ter", "hgvsWellDefined": "XP_006720856.1:p.Glu127_Ser1101delinsTyrPheAspLysAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073812" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "G", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522267.1:c.379G>T" ], "proteinEffect": { "hgvs": "XP_011520569.1:p.Glu127Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089422" }, { "coordinates": [ { "allele": "T", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522268.1:c.379G>T" ], "proteinEffect": { "hgvs": "XP_011520570.1:p.Glu127Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089423" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "G", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.1:c.379G>T" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Glu127Ter", "hgvsWellDefined": "XP_011520571.1:p.Glu127_His680delinsTyrPheAspLysAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrProGlnMetGlyThrPheMetGlyValTyrLeuProCysLeuGlnAsnIlePheGlyValIleLeuPheLeuArgLeuThrTrpValValGlyThrAlaGlyValLeuGlnAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089424" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "G", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_429476.2:n.385G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118385" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "G", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931960.1:n.385G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128014" }, { "coordinates": [ { "allele": "T", "end": 385, "referenceAllele": "G", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931961.1:n.385G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128015" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001365088.1:c.379G>T" ], "proteinEffect": { "hgvs": "NP_001352017.1:p.Glu127Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS524027", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354181.8:c.379G>T" }, "RefSeq": { "hgvs": "NM_001365088.1:c.379G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346112.3:p.Glu127Ter" }, "RefSeq": { "hgvs": "NP_001352017.1:p.Glu127Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.4:c.379G>T" ], "proteinEffect": { "hgvs": "XP_006720856.1:p.Glu127Ter", "hgvsWellDefined": "XP_006720856.1:p.Glu127_Ser1101delinsTyrPheAspLysAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540170" }, { "coordinates": [ { "allele": "T", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.3:c.379G>T" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Glu127Ter", "hgvsWellDefined": "XP_011520571.1:p.Glu127_His680delinsTyrPheAspLysAsnLeuAlaLeuPheGluGluGluMetAspThrArgProLysValSerSerLeuLeuAsnArgMetAlaAsnTyrThrAsnLeuThrGlnGlyAlaLysGluHisGluGluAlaGluAsnIleThrGluGlyLysLysLysProThrLysThrProGlnMetGlyThrPheMetGlyValTyrLeuProCysLeuGlnAsnIlePheGlyValIleLeuPheLeuArgLeuThrTrpValValGlyThrAlaGlyValLeuGlnAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546547" }, { "coordinates": [ { "allele": "T", "end": 1629, "referenceAllele": "G", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931960.3:n.1629G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610074" }, { "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042494.2:c.202G>T" ], "proteinEffect": { "hgvs": "NP_001035959.1:p.Glu68Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676038" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "G", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042495.2:c.202G>T" ], "proteinEffect": { "hgvs": "NP_001035960.1:p.Glu68Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676039" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "G", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042496.2:c.352G>T" ], "proteinEffect": { "hgvs": "NP_001035961.1:p.Glu118Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676040" }, { "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "G", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042497.2:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001035962.1:p.Glu112Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676041" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.2:c.379G>T" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Glu127Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729120" } ], "type": "nucleotide" }