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"referenceAllele": "C", "start": 144, "startIntronDirection": "+", "startIntronOffset": 3839 } ], "hgvs": [ "XR_944039.1:n.144+3840C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138035" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XM_011536547.2:c.1224G>A" ], "proteinEffect": { "hgvs": "XP_011534849.1:p.Trp408Ter", "hgvsWellDefined": "XP_011534849.1:p.Trp408_Leu573delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysValGlyGlnGluGlnLeuArgGlySerProLysAspGluArgMetSerSerHisAspGlyLysCysProPheGlnSerAlaAlaPheThrSerArgAspGlnSerAsnSerProGlyIleProAsnProArgProSerSerProThrProLeuAsnGluArgGlyArgGlnIleSerProSerThrArgThrProGlyGlyGlnValThrPheCysSerPheSerIleGluAlaLeuValProProProTrpLeuTyrProArgAsnLeuProAlaTrpAlaSerGlyLeuGlyArgAlaGluValIleProAspArgArgGluGlyTrpLeuLysSerThrAsnCysArgAlaAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552537" }, { "coordinates": [ { "allele": "A", "end": 1768, "referenceAllele": "G", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XM_011536550.2:c.1161G>A" ], "proteinEffect": { "hgvs": "XP_011534852.1:p.Trp387Ter", "hgvsWellDefined": "XP_011534852.1:p.Trp387_Leu552delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysValGlyGlnGluGlnLeuArgGlySerProLysAspGluArgMetSerSerHisAspGlyLysCysProPheGlnSerAlaAlaPheThrSerArgAspGlnSerAsnSerProGlyIleProAsnProArgProSerSerProThrProLeuAsnGluArgGlyArgGlnIleSerProSerThrArgThrProGlyGlyGlnValThrPheCysSerPheSerIleGluAlaLeuValProProProTrpLeuTyrProArgAsnLeuProAlaTrpAlaSerGlyLeuGlyArgAlaGluValIleProAspArgArgGluGlyTrpLeuLysSerThrAsnCysArgAlaAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552538" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XM_011536553.2:c.1224G>A" ], "proteinEffect": { "hgvs": "XP_011534855.1:p.Trp408Ter", "hgvsWellDefined": "XP_011534855.1:p.Trp408_Leu531delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysAlaTrpAlaArgAlaAspSerLeuGlnGluTrpArgProLeuGluGlnValProSerProLeuHisArgAlaThrLysArgGlnHisValHisPheLeuThrProLeuProProProProSerValAlaTrpValGlyThrAlaGlnAlaGlyTyrHisLeuGluValPheLeuProGlnArgAlaGlyThrGlnGlyThrThrValSerPhePheGlnArgSerTyrLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552539" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XM_011536554.2:c.1224G>A" ], "proteinEffect": { "hgvs": "XP_011534856.1:p.Trp408Ter", "hgvsWellDefined": "XP_011534856.1:p.Trp408_Met529delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysValGlyGlnGluGlnLeuArgGlySerProLysAspGluArgMetSerSerHisAspGlyLysCysProPheGlnSerAlaAlaPheThrSerArgAspGlnSerAsnSerProGlyIleProAsnProArgProSerSerProThrProLeuAsnGluArgGlyArgGlnIleSerProSerThrArgThrProGlyGlyGlnGlyLysHisLeuTrpLeuThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552540" }, { "coordinates": [ { "allele": "A", "end": 1339, "referenceAllele": "G", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XM_017021085.1:c.1161G>A" ], "proteinEffect": { "hgvs": "XP_016876574.1:p.Trp387Ter", "hgvsWellDefined": "XP_016876574.1:p.Trp387_Leu552delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysValGlyGlnGluGlnLeuArgGlySerProLysAspGluArgMetSerSerHisAspGlyLysCysProPheGlnSerAlaAlaPheThrSerArgAspGlnSerAsnSerProGlyIleProAsnProArgProSerSerProThrProLeuAsnGluArgGlyArgGlnIleSerProSerThrArgThrProGlyGlyGlnValThrPheCysSerPheSerIleGluAlaLeuValProProProTrpLeuTyrProArgAsnLeuProAlaTrpAlaSerGlyLeuGlyArgAlaGluValIleProAspArgArgGluGlyTrpLeuLysSerThrAsnCysArgAlaAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572395" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XM_024449508.1:c.1224G>A" ], "proteinEffect": { "hgvs": "XP_024305276.1:p.Trp408Ter", "hgvsWellDefined": "XP_024305276.1:p.Trp408_Ala521delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysAlaTrpAlaArgAlaAspSerLeuGlnGluTrpArgProLeuGluGlnValProSerProLeuHisArgAlaThrLysArgGlnHisValHisPheLeuThrProLeuProProProProSerValAlaTrpValGlyThrAlaGlnAlaGlyTyrHisLeuGluValPheLeuProGlnArgAlaGlyTrpProArgAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583057" }, { "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "G", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XM_024449509.1:c.1161G>A" ], "proteinEffect": { "hgvs": "XP_024305277.1:p.Trp387Ter", "hgvsWellDefined": "XP_024305277.1:p.Trp387_Met508delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysValGlyGlnGluGlnLeuArgGlySerProLysAspGluArgMetSerSerHisAspGlyLysCysProPheGlnSerAlaAlaPheThrSerArgAspGlnSerAsnSerProGlyIleProAsnProArgProSerSerProThrProLeuAsnGluArgGlyArgGlnIleSerProSerThrArgThrProGlyGlyGlnGlyLysHisLeuTrpLeuThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583058" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XR_001750189.1:n.1694G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597656" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "XR_943401.2:n.1694G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS613413" }, { "@id": "http://reg.genome.network/allele/PA2573075974", "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "G", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "NM_001379180.1:c.1224G>A" ], "proteinEffect": { "hgvs": "NP_001366109.1:p.Trp408Ter", "hgvsWellDefined": "NP_001366109.1:p.Trp408_Val454delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721928", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644823.1:c.1224G>A" }, "RefSeq": { "hgvs": "NM_001379180.1:c.1224G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493776.1:p.Trp408Ter" }, "RefSeq": { "hgvs": "NP_001366109.1:p.Trp408Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA273151", "coordinates": [ { "allele": "A", "end": 1608, "referenceAllele": "G", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN003473", "geneNCBI_id": 2103, "geneSymbol": "ESRRB", "hgvs": [ "NM_004452.4:c.1161G>A" ], "proteinEffect": { "hgvs": "NP_004443.3:p.Trp387Ter", "hgvsWellDefined": "NP_004443.3:p.Trp387_Met508delinsArgThrGlyLysLeuLeuLeuThrLeuProLeuLeuArgGlnThrAlaAlaLysAlaValGlnHisPheTyrSerValLysLeuGlnGlyLysValProMetHisLysLeuPheLeuGluMetLeuGluAlaLysValGlyGlnGluGlnLeuArgGlySerProLysAspGluArgMetSerSerHisAspGlyLysCysProPheGlnSerAlaAlaPheThrSerArgAspGlnSerAsnSerProGlyIleProAsnProArgProSerSerProThrProLeuAsnGluArgGlyArgGlnIleSerProSerThrArgThrProGlyGlyGlnGlyLysHisLeuTrpLeuThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727506" } ], "type": "nucleotide" }