{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA126452", "communityStandardTitle": [ "NM_005141.5(FGB):c.139C>T (p.Arg47Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31435[alleleid]", "alleleId": 31435, "preferredName": "NM_005141.5(FGB):c.139C>T (p.Arg47Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16396", "RCV": [ "RCV000851927", "RCV002243650", "RCV001723574", "RCV000017822" ], "variationId": 16396 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-155486984-C-T", "id": "4-155486984-C-T", "variant": "4:155486984 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.155486984C>T?assembly=hg19", "id": "chr4:g.155486984C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.154565832C>T?assembly=hg38", "id": "chr4:g.154565832C>T" } ], "dbSNP": [ { "@id": 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"http://reg.genome.network/refseq/RS333410" }, { "coordinates": [ { "allele": "T", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "ENST00000498375.2:n.769C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334395" }, { "coordinates": [ { "allele": "T", "end": 120, "referenceAllele": "C", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "ENST00000502545.5:n.120C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS335075" }, { "coordinates": [ { "allele": "T", "end": 107, "endIntronDirection": "-", "endIntronOffset": 1760, "referenceAllele": "C", "start": 107, "startIntronDirection": "-", "startIntronOffset": 1761 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "ENST00000509493.1:c.-167-1761C>T" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS015946" }, { "@id": "http://reg.genome.network/allele/PA126454", "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "C", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_005141.4:c.139C>T", "LRG_558t1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_005132.2:p.Arg47Ter", "hgvsWellDefined": "NP_005132.2:p.Arg47_Gln491delinsProLeuAspLysLysArgGluGluAlaProSerLeuArgProAlaProProProIleSerGlyGlyGlyTyrArgAlaArgProAlaLysAlaAlaAlaThrGlnLysLysValGluArgLysAlaProAspAlaGlyGlyCysLeuHisAlaAspProAspLeuGlyValLeuCysProThrGlyCysGlnLeuGlnGluAlaLeuLeuGlnGlnGluArgProIleArgAsnSerValAspGluLeuAsnAsnAsnValGluAlaValSerGlnThrSerSerSerSerPheGlnTyrMetTyrLeuLeuLysAspLeuTrpGlnLysArgGlnLysGlnValLysAspAsnGluAsnValValAsnGluTyrSerSerGluLeuGluLysHisGlnLeuTyrIleAspGluThrValAsnSerAsnIleProThrAsnLeuArgValLeuArgSerIleLeuGluAsnLeuArgSerLysIleGlnLysLeuGluSerAspValSerAlaGlnMetGluTyrCysArgThrProCysThrValSerCysAsnIleProValValSerGlyLysGluCysGluGluIleIleArgLysGlyGlyGluThrSerGluMetTyrLeuIleGlnProAspSerSerValLysProTyrArgValTyrCysAspMetAsnThrGluAsnGlyGlyTrpThrValIleGlnAsnArgGlnAspGlySerValAspPheGlyArgLysTrpAspProTyrLysGlnGlyPheGlyAsnValAlaThrAsnThrAspGlyLysAsnTyrCysGlyLeuProGlyGluTyrTrpLeuGlyAsnAspLysIleSerGlnLeuThrArgMetGlyProThrGluLeuLeuIleGluMetGluAspTrpLysGlyAspLysValLysAlaHisTyrGlyGlyPheThrValGlnAsnGluAlaAsnLysTyrGlnIleSerValAsnLysTyrArgGlyThrAlaGlyAsnAlaLeuMetAspGlyAlaSerGlnLeuMetGlyGluAsnArgThrMetThrIleHisAsnGlyMetPhePheSerThrTyrAspArgAspAsnAspGlyTrpLeuThrSerAspProArgLysGlnCysSerLysGluAspGlyGlyGlyTrpTrpTyrAsnArgCysHisAlaAlaAsnProAsnGlyArgTyrTyrTrpGlyGlyGlnTyrThrTrpAspMetAlaLysHisGlyThrAspAspGlyValValTrpMetAsnTrpLysGlySerTrpTyrSerMetArgLysMetSerMetLysIleArgProPhePheProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030262" }, { "@id": "http://reg.genome.network/allele/PA2828918632", "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_001382759.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001369688.1:p.Arg47Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS722597" }, { "@id": "http://reg.genome.network/allele/PA2828918721", "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_001382760.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001369689.1:p.Arg47Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS722598" }, { "@id": "http://reg.genome.network/allele/PA2828918803", "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_001382761.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001369690.1:p.Arg47Ter", "hgvsWellDefined": "NP_001369690.1:p.Arg47_Gly414delinsProLeuAspLysLysArgGluGluAlaProSerLeuArgProAlaProProProIleSerGlyGlyGlyTyrArgAlaArgProAlaLysAlaAlaAlaThrGlnLysLysValGluArgLysAlaProAspAlaGlyGlyCysLeuHisAlaAspProAspLeuGlyValLeuCysProThrGlyCysGlnLeuGlnGluAlaLeuLeuGlnGlnGluArgProIleArgAsnSerValAspGluLeuAsnAsnAsnValGluAlaValSerGlnThrSerSerSerSerPheGlnTyrMetTyrLeuLeuLysAspLeuTrpGlnLysArgGlnLysGlnValLysAspAsnGluAsnValValAsnGluTyrSerSerGluLeuGluLysHisGlnLeuTyrIleAspGluThrValAsnSerAsnIleProThrAsnLeuArgValLeuArgSerIleLeuGluAsnLeuArgSerLysIleGlnLysLeuGluSerAspValSerAlaGlnMetGluTyrCysArgThrProCysThrValSerCysAsnIleProValValSerGlyLysGluCysGluGluIleIleArgLysGlyGlyGluThrSerGluMetTyrLeuIleGlnProAspSerSerValLysProTyrArgValTyrCysAspMetAsnThrGluAsnGlyGlyTrpThrValIleGlnAsnArgGlnAspGlySerValAspPheGlyArgLysTrpAspProTyrLysGlnGlyPheGlyAsnValAlaThrAsnThrAspGlyLysAsnTyrCysGlyLeuProGlyGluTyrTrpLeuGlyAsnAspLysIleSerGlnLeuThrArgMetGlyProThrGluLeuLeuIleGluMetGluAspTrpLysGlyAspLysValLysAlaHisTyrGlyGlyPheThrValGlnAsnGluAlaAsnLysTyrGlnIleSerValAsnLysTyrArgGlyThrAlaGlyAsnAlaLeuMetAspGlyAlaSerGlnLeuMetGlyGluAsnArgThrMetThrIleHisAsnGlyMetPhePheSerThrTyrAspArgAspAsnAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722599" }, { "@id": "http://reg.genome.network/allele/PA2828918884", "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_001382762.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001369691.1:p.Arg47Ter", "hgvsWellDefined": "NP_001369691.1:p.Arg47_Gln391delinsProLeuAspLysLysArgGluGluAlaProSerLeuArgProAlaProProProIleSerGlyGlyGlyTyrArgAlaArgProAlaLysAlaAlaAlaThrGlnLysLysValGluArgLysAlaProAspAlaGlyGlyCysLeuHisAlaAspProAspLeuGlyValLeuCysProThrGlyCysGlnLeuGlnGluAlaLeuLeuGlnGlnGluArgProIleArgAsnSerValAspGluLeuAsnAsnAsnValGluAlaValSerGlnThrSerSerSerSerPheGlnTyrMetTyrLeuLeuLysAspLeuTrpGlnLysArgGlnLysGlnValLysAspAsnGluAsnValValAsnGluTyrSerSerGluLeuGluLysHisGlnLeuTyrIleAspGluThrValAsnSerAsnIleProThrAsnLeuArgValLeuArgSerIleLeuGluAsnLeuArgSerLysIleGlnLysLeuGluSerAspValSerAlaGlnMetGluTyrCysArgThrProCysThrValSerCysAsnIleProValValSerGlyLysGluCysGluGluIleIleArgLysGlyGlyAspLysValLysAlaHisTyrGlyGlyPheThrValGlnAsnGluAlaAsnLysTyrGlnIleSerValAsnLysTyrArgGlyThrAlaGlyAsnAlaLeuMetAspGlyAlaSerGlnLeuMetGlyGluAsnArgThrMetThrIleHisAsnGlyMetPhePheSerThrTyrAspArgAspAsnAspGlyTrpLeuThrSerAspProArgLysGlnCysSerLysGluAspGlyGlyGlyTrpTrpTyrAsnArgCysHisAlaAlaAsnProAsnGlyArgTyrTyrTrpGlyGlyGlnTyrThrTrpAspMetAlaLysHisGlyThrAspAspGlyValValTrpMetAsnTrpLysGlySerTrpTyrSerMetArgLysMetSerMetLysIleArgProPhePheProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722600" }, { "@id": "http://reg.genome.network/allele/PA2828918962", "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_001382763.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001369692.1:p.Arg47Ter", "hgvsWellDefined": "NP_001369692.1:p.Arg47_Gln488delinsProLeuAspLysLysArgGluGluAlaProSerLeuArgProAlaProProProIleSerGlyGlyGlyTyrArgAlaArgProAlaLysAlaAlaAlaThrGlnLysLysValGluArgLysAlaProAspAlaGlyGlyCysLeuHisAlaAspProAspLeuGlyValLeuCysProThrGlyCysGlnLeuGlnGluAlaLeuLeuGlnGlnGluArgProIleArgAsnSerValAspGluLeuAsnAsnAsnValGluAlaValSerGlnThrSerSerSerSerPheGlnTyrMetTyrLeuLeuLysAspLeuTrpGlnLysArgGlnLysGlnValLysAspAsnGluAsnValValAsnGluTyrSerSerGluLeuGluLysHisGlnLeuTyrIleAspGluThrValAsnSerAsnIleProThrAsnLeuArgValLeuArgSerIleLeuGluAsnLeuArgSerLysIleGlnLysLeuGluSerAspValSerAlaGlnMetGluTyrCysArgThrProCysThrValSerCysAsnIleProValValSerGlyLysGluCysGluGluIleIleArgLysGlyGlyGluThrSerGluMetTyrLeuIleGlnProAspSerSerValLysProTyrArgValTyrCysAspMetAsnThrGluAsnGlyValIleGlnAsnArgGlnAspGlySerValAspPheGlyArgLysTrpAspProTyrLysGlnGlyPheGlyAsnValAlaThrAsnThrAspGlyLysAsnTyrCysGlyLeuProGlyGluTyrTrpLeuGlyAsnAspLysIleSerGlnLeuThrArgMetGlyProThrGluLeuLeuIleGluMetGluAspTrpLysGlyAspLysValLysAlaHisTyrGlyGlyPheThrValGlnAsnGluAlaAsnLysTyrGlnIleSerValAsnLysTyrArgGlyThrAlaGlyAsnAlaLeuMetAspGlyAlaSerGlnLeuMetGlyGluAsnArgThrMetThrIleHisAsnGlyMetPhePheSerThrTyrAspArgAspAsnAspGlyTrpLeuThrSerAspProArgLysGlnCysSerLysGluAspGlyGlyGlyTrpTrpTyrAsnArgCysHisAlaAlaAsnProAsnGlyArgTyrTyrTrpGlyGlyGlnTyrThrTrpAspMetAlaLysHisGlyThrAspAspGlyValValTrpMetAsnTrpLysGlySerTrpTyrSerMetArgLysMetSerMetLysIleArgProPhePheProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722601" }, { "@id": "http://reg.genome.network/allele/PA2828919056", "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_001382764.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001369693.1:p.Arg47Ter", "hgvsWellDefined": "NP_001369693.1:p.Arg47_Val362delinsProLeuAspLysLysArgGluGluAlaProSerLeuArgProAlaProProProIleSerGlyGlyGlyTyrArgAlaArgProAlaLysAlaAlaAlaThrGlnLysLysValGluArgLysAlaProAspAlaGlyGlyCysLeuHisAlaAspProAspLeuGlyValLeuCysProThrGlyCysGlnLeuGlnGluAlaLeuLeuGlnGlnGluArgProIleArgAsnSerValAspGluLeuAsnAsnAsnValGluAlaValSerGlnThrSerSerSerSerPheGlnTyrMetTyrLeuLeuLysAspLeuTrpGlnLysArgGlnLysGlnValLysAspAsnGluAsnValValAsnGluTyrSerSerGluLeuGluLysHisGlnLeuTyrIleAspGluThrValAsnSerAsnIleProThrAsnLeuArgValLeuArgSerIleLeuGluAsnLeuArgSerLysIleGlnLysLeuGluSerAspValSerAlaGlnMetGluTyrCysArgThrProCysThrValSerCysAsnIleProValValSerGlyLysGluCysGluGluIleIleArgLysGlyGlyGluThrSerGluMetTyrLeuIleGlnProAspSerSerValLysProTyrArgValTyrCysAspMetAsnThrGluAsnGlyGlyTrpThrValIleGlnAsnArgGlnAspGlySerValAspPheGlyArgLysTrpAspProTyrLysGlnGlyPheGlyAsnValAlaThrAsnThrAspGlyLysAsnTyrCysGlyLeuProGlyGluTyrTrpLeuGlyAsnAspLysIleSerGlnLeuThrArgMetGlyProThrGluLeuLeuIleGluMetGluAspTrpLysGlyAspLysValLysAlaHisTyrGlyGlyPheThrHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722602" }, { "@id": "http://reg.genome.network/allele/PA2828919125", "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_001382765.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001369694.1:p.Arg47Ter", "hgvsWellDefined": "NP_001369694.1:p.Arg47_Gln483delinsProLeuAspLysLysArgGluGluAlaProSerLeuArgProAlaProProProIleSerGlyGlyGlyTyrArgAlaArgProAlaLysAlaAlaAlaThrGlnLysLysValGluArgLysAlaProAspAlaGlyGlyCysLeuHisAlaAspProAspLeuGlyValLeuCysProThrGlyCysGlnLeuGlnGluAlaLeuLeuGlnGlnGluArgProIleArgAsnSerValAspGluLeuAsnAsnAsnValGluAlaValSerGlnThrSerSerSerSerPheGlnTyrMetTyrLeuLeuLysAspLeuTrpGlnLysArgGlnLysGlnValLysAspAsnGluAsnValValAsnGluTyrSerSerGluLeuGluLysHisGlnLeuTyrIleAspGluThrValAsnSerAsnIleProThrAsnLeuArgValLeuArgSerIleLeuGluAsnLeuArgSerLysIleGlnLysLeuGluSerAspValSerAlaGlnMetGluTyrCysArgThrProCysThrValSerCysAsnIleProValValSerGlyLysGluCysGluGluIleIleArgLysGlyGlyGluThrSerGluMetTyrLeuIleGlnProAspSerSerValLysProTyrArgValTyrCysAspMetAsnThrGluAsnGlyGlyTrpThrValIleGlnAsnArgGlnAspGlySerValAspPheGlyArgLysTrpAspProTyrLysGlnGlyPheGlyAsnValAlaThrAsnThrAspGlyLysAsnTyrCysGlyLeuProGlyGluTyrTrpLeuGlyAsnAspLysIleSerGlnLeuThrArgMetGlyProThrGluLeuLeuIleGluMetGluAspTrpLysGlyAspLysValLysAlaHisTyrGlyGlyPheThrValGlnAsnGluAlaAsnLysTyrGlnIleSerValAsnLysTyrArgGlyThrAlaGlyAsnAlaLeuMetAspGlyAlaSerGlnLeuMetGlyGluAsnArgThrMetThrIleHisAsnGlyMetPhePheSerThrLeuThrSerAspProArgLysGlnCysSerLysGluAspGlyGlyGlyTrpTrpTyrAsnArgCysHisAlaAlaAsnProAsnGlyArgTyrTyrTrpGlyGlyGlnTyrThrTrpAspMetAlaLysHisGlyThrAspAspGlyValValTrpMetAsnTrpLysGlySerTrpTyrSerMetArgLysMetSerMetLysIleArgProPhePheProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722603" }, { "@id": "http://reg.genome.network/allele/PA126454", "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN003662", "geneNCBI_id": 2244, "geneSymbol": "FGB", "hgvs": [ "NM_005141.5:c.139C>T" ], "proteinEffect": { "hgvs": "NP_005132.2:p.Arg47Ter", "hgvsWellDefined": "NP_005132.2:p.Arg47_Gln491delinsProLeuAspLysLysArgGluGluAlaProSerLeuArgProAlaProProProIleSerGlyGlyGlyTyrArgAlaArgProAlaLysAlaAlaAlaThrGlnLysLysValGluArgLysAlaProAspAlaGlyGlyCysLeuHisAlaAspProAspLeuGlyValLeuCysProThrGlyCysGlnLeuGlnGluAlaLeuLeuGlnGlnGluArgProIleArgAsnSerValAspGluLeuAsnAsnAsnValGluAlaValSerGlnThrSerSerSerSerPheGlnTyrMetTyrLeuLeuLysAspLeuTrpGlnLysArgGlnLysGlnValLysAspAsnGluAsnValValAsnGluTyrSerSerGluLeuGluLysHisGlnLeuTyrIleAspGluThrValAsnSerAsnIleProThrAsnLeuArgValLeuArgSerIleLeuGluAsnLeuArgSerLysIleGlnLysLeuGluSerAspValSerAlaGlnMetGluTyrCysArgThrProCysThrValSerCysAsnIleProValValSerGlyLysGluCysGluGluIleIleArgLysGlyGlyGluThrSerGluMetTyrLeuIleGlnProAspSerSerValLysProTyrArgValTyrCysAspMetAsnThrGluAsnGlyGlyTrpThrValIleGlnAsnArgGlnAspGlySerValAspPheGlyArgLysTrpAspProTyrLysGlnGlyPheGlyAsnValAlaThrAsnThrAspGlyLysAsnTyrCysGlyLeuProGlyGluTyrTrpLeuGlyAsnAspLysIleSerGlnLeuThrArgMetGlyProThrGluLeuLeuIleGluMetGluAspTrpLysGlyAspLysValLysAlaHisTyrGlyGlyPheThrValGlnAsnGluAlaAsnLysTyrGlnIleSerValAsnLysTyrArgGlyThrAlaGlyAsnAlaLeuMetAspGlyAlaSerGlnLeuMetGlyGluAsnArgThrMetThrIleHisAsnGlyMetPhePheSerThrTyrAspArgAspAsnAspGlyTrpLeuThrSerAspProArgLysGlnCysSerLysGluAspGlyGlyGlyTrpTrpTyrAsnArgCysHisAlaAlaAsnProAsnGlyArgTyrTyrTrpGlyGlyGlnTyrThrTrpAspMetAlaLysHisGlyThrAspAspGlyValValTrpMetAsnTrpLysGlySerTrpTyrSerMetArgLysMetSerMetLysIleArgProPhePheProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727589", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302068.9:c.139C>T" }, "RefSeq": { "hgvs": "NM_005141.5:c.139C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306099.4:p.Arg47Ter" }, "RefSeq": { "hgvs": "NP_005132.2:p.Arg47Ter" } } } } ], "type": "nucleotide" }