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}, "referenceSequence": "http://reg.genome.network/refseq/RS401285" }, { "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000612626.4:c.168C>A" ], "proteinEffect": { "hgvs": "ENSP00000479846.1:p.Cys56Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS401383" }, { "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000615111.4:c.168C>A" ], "proteinEffect": { "hgvs": "ENSP00000478291.1:p.Cys56Ter", "hgvsWellDefined": "ENSP00000478291.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402478" }, { "coordinates": [ { "allele": "A", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000618088.4:c.168C>A" ], "proteinEffect": { "hgvs": "ENSP00000482373.1:p.Cys56Ter", "hgvsWellDefined": "ENSP00000482373.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403781" }, { "coordinates": [ { "allele": "A", "end": 326, "referenceAllele": "C", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000620156.4:c.189C>A" ], "proteinEffect": { "hgvs": "ENSP00000483403.1:p.Cys63Ter", "hgvsWellDefined": "ENSP00000483403.1:p.Cys63_Pro645delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404699" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000622294.2:c.168C>A" ], "proteinEffect": { "hgvs": "ENSP00000483926.1:p.Cys56Ter", "hgvsWellDefined": "ENSP00000483926.1:p.Cys56_Asn295delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgLysGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405658" }, { "@id": "http://reg.genome.network/allele/PA119794", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_000163.4:c.168C>A" ], "proteinEffect": { "hgvs": "NP_000154.1:p.Cys56Ter", "hgvsWellDefined": "NP_000154.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006225" }, { "@id": "http://reg.genome.network/allele/PA916005595", "coordinates": [ { "allele": "A", "end": 326, "referenceAllele": "C", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242399.2:c.189C>A" ], "proteinEffect": { "hgvs": "NP_001229328.1:p.Cys63Ter", "hgvsWellDefined": "NP_001229328.1:p.Cys63_Pro645delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018103" }, { "@id": "http://reg.genome.network/allele/PA2826298892", "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242400.2:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229329.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229329.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018104" }, { "@id": "http://reg.genome.network/allele/PA2826299198", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "C", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242401.3:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229330.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229330.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018105" }, { "@id": "http://reg.genome.network/allele/PA2826299504", "coordinates": [ { "allele": "A", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242402.2:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229331.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229331.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018106" }, { "@id": "http://reg.genome.network/allele/PA2826299810", "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242403.2:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229332.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229332.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018107" }, { "@id": "http://reg.genome.network/allele/PA2826300116", "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242404.2:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229333.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229333.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018108" }, { "@id": "http://reg.genome.network/allele/PA2826300422", "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "C", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242405.2:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229334.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229334.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018109" }, { "@id": "http://reg.genome.network/allele/PA2826300728", "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242406.2:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229335.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229335.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018110" }, { "@id": "http://reg.genome.network/allele/PA2826301236", "coordinates": [ { "allele": "A", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242460.1:c.102C>A" ], "proteinEffect": { "hgvs": "NP_001229389.1:p.Cys34Ter", "hgvsWellDefined": "NP_001229389.1:p.Cys34_Pro616delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018123" }, { "@id": "http://reg.genome.network/allele/PA2826301528", "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242462.1:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229391.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229391.1:p.Cys56_Asn295delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgLysGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018124" }, { "coordinates": [ { "allele": "A", "end": 138, "referenceAllele": "C", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "XM_011514031.1:c.123C>A" ], "proteinEffect": { "hgvs": "XP_011512333.1:p.Cys41Ter", "hgvsWellDefined": "XP_011512333.1:p.Cys41_Pro623delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081257" }, { "@id": "http://reg.genome.network/allele/PA119794", "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_000163.5:c.168C>A" ], "proteinEffect": { "hgvs": "NP_000154.1:p.Cys56Ter", "hgvsWellDefined": "NP_000154.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662336", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230882.9:c.168C>A" }, "RefSeq": { "hgvs": "NM_000163.5:c.168C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230882.4:p.Cys56Ter" }, "RefSeq": { "hgvs": "NP_000154.1:p.Cys56Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826299198", "coordinates": [ { "allele": "A", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242401.4:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229330.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229330.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680063" }, { "@id": "http://reg.genome.network/allele/PA2826299810", "coordinates": [ { "allele": "A", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242403.3:c.168C>A" ], "proteinEffect": { "hgvs": "NP_001229332.1:p.Cys56Ter", "hgvsWellDefined": "NP_001229332.1:p.Cys56_Pro638delinsArgSerProGluArgGluThrPheSerCysHisTrpThrAspGluValHisHisGlyThrLysAsnLeuGlyProIleGlnLeuPheTyrThrArgArgAsnThrGlnGluTrpThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714315" } ], "type": "nucleotide" }