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"TSHR", "hgvs": [ "NM_000369.5:c.1637G>A" ], "proteinEffect": { "hgvs": "NP_000360.2:p.Trp546Ter", "hgvsWellDefined": "NP_000360.2:p.Trp546_Leu764delinsValCysCysPheLeuLeuAlaLeuLeuProLeuValGlyIleSerSerTyrAlaLysValSerIleCysLeuProMetAspThrGluThrProLeuAlaLeuAlaTyrIleValPheValLeuThrLeuAsnIleValAlaPheValIleValCysCysCysTyrValLysIleTyrIleThrValArgAsnProGlnTyrAsnProGlyAspLysAspThrLysIleAlaLysArgMetAlaValLeuIlePheThrAspPheIleCysMetAlaProIleSerPheTyrAlaLeuSerAlaIleLeuAsnLysProLeuIleThrValSerAsnSerLysIleLeuLeuValLeuPheTyrProLeuAsnSerCysAlaAsnProPheLeuTyrAlaIlePheThrLysAlaPheGlnArgAspValPheIleLeuLeuSerLysPheGlyIleCysLysArgGlnAlaGlnAlaTyrArgGlyGlnArgValProProLysAsnSerThrAspIleGlnValGlnLysValThrHisGluMetArgGlnGlyLeuHisAsnMetGluAspValTyrGluLeuIleGluAsnSerHisLeuThrProLysLysGlnGlyGlnIleSerGluGluTyrMetGlnThrValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710830", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298171.7:c.1637G>A" }, "RefSeq": { "hgvs": "NM_000369.5:c.1637G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298171.2:p.Trp546Ter" }, "RefSeq": { "hgvs": "NP_000360.2:p.Trp546Ter" } } } } ], "type": "nucleotide" }