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}, "referenceSequence": "http://reg.genome.network/refseq/RS402478" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000618088.4:c.281G>A" ], "proteinEffect": { "hgvs": "ENSP00000482373.1:p.Trp94Ter", "hgvsWellDefined": "ENSP00000482373.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403781" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000620156.4:c.302G>A" ], "proteinEffect": { "hgvs": "ENSP00000483403.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000483403.1:p.Trp101_Pro645delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404699" }, { "coordinates": [ { "allele": "A", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000622294.2:c.281G>A" ], "proteinEffect": { "hgvs": "ENSP00000483926.1:p.Trp94Ter", "hgvsWellDefined": "ENSP00000483926.1:p.Trp94_Asn295delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgLysGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405658" }, { "@id": "http://reg.genome.network/allele/PA645434174", "coordinates": [ { "allele": "A", "end": 473, "referenceAllele": "G", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_000163.4:c.281G>A" ], "proteinEffect": { "hgvs": "NP_000154.1:p.Trp94Ter", "hgvsWellDefined": "NP_000154.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006225" }, { "@id": "http://reg.genome.network/allele/PA2826298740", "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242399.2:c.302G>A" ], "proteinEffect": { "hgvs": "NP_001229328.1:p.Trp101Ter", "hgvsWellDefined": "NP_001229328.1:p.Trp101_Pro645delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018103" }, { "@id": "http://reg.genome.network/allele/PA2826298911", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242400.2:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229329.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229329.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018104" }, { "@id": "http://reg.genome.network/allele/PA2826299217", "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242401.3:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229330.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229330.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018105" }, { "@id": "http://reg.genome.network/allele/PA2826299523", "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242402.2:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229331.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229331.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018106" }, { "@id": "http://reg.genome.network/allele/PA2826299829", "coordinates": [ { "allele": "A", "end": 609, "referenceAllele": "G", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242403.2:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229332.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229332.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018107" }, { "@id": "http://reg.genome.network/allele/PA2826300135", "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242404.2:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229333.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229333.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018108" }, { "@id": "http://reg.genome.network/allele/PA2826300441", "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "G", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242405.2:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229334.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229334.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018109" }, { "@id": "http://reg.genome.network/allele/PA2826300747", "coordinates": [ { "allele": "A", "end": 695, "referenceAllele": "G", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242406.2:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229335.1:p.Trp94Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS018110" }, { "@id": "http://reg.genome.network/allele/PA2826301255", "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242460.1:c.215G>A" ], "proteinEffect": { "hgvs": "NP_001229389.1:p.Trp72Ter", "hgvsWellDefined": "NP_001229389.1:p.Trp72_Pro616delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018123" }, { "@id": "http://reg.genome.network/allele/PA916005750", "coordinates": [ { "allele": "A", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242462.1:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229391.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229391.1:p.Trp94_Asn295delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgLysGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018124" }, { "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "XM_011514031.1:c.236G>A" ], "proteinEffect": { "hgvs": "XP_011512333.1:p.Trp79Ter", "hgvsWellDefined": "XP_011512333.1:p.Trp79_Pro623delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081257" }, { "@id": "http://reg.genome.network/allele/PA645434174", "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "G", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_000163.5:c.281G>A" ], "proteinEffect": { "hgvs": "NP_000154.1:p.Trp94Ter", "hgvsWellDefined": "NP_000154.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662336", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230882.9:c.281G>A" }, "RefSeq": { "hgvs": "NM_000163.5:c.281G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230882.4:p.Trp94Ter" }, "RefSeq": { "hgvs": "NP_000154.1:p.Trp94Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826299217", "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242401.4:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229330.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229330.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680063" }, { "@id": "http://reg.genome.network/allele/PA2826299829", "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "G", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242403.3:c.281G>A" ], "proteinEffect": { "hgvs": "NP_001229332.1:p.Trp94Ter", "hgvsWellDefined": "NP_001229332.1:p.Trp94_Pro638delinsThrGlnGluTrpLysGluCysProAspTyrValSerAlaGlyGluAsnSerCysTyrPheAsnSerSerPheThrSerIleTrpIleProTyrCysIleLysLeuThrSerAsnGlyGlyThrValAspGluLysCysPheSerValAspGluIleValGlnProAspProProIleAlaLeuAsnTrpThrLeuLeuAsnValSerLeuThrGlyIleHisAlaAspIleGlnValArgTrpGluAlaProArgAsnAlaAspIleGlnLysGlyTrpMetValLeuGluTyrGluLeuGlnTyrLysGluValAsnGluThrLysTrpLysMetMetAspProIleLeuThrThrSerValProValTyrSerLeuLysValAspLysGluTyrGluValArgValArgSerLysGlnArgAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714315" } ], "type": "nucleotide" }