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}, "referenceSequence": "http://reg.genome.network/refseq/RS271987" }, { "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000403558.1:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000384420.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000384420.1:p.Gln214_Ala543delinsValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerGluGlnProSerHisLeuPheProLeuAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279835" }, { "coordinates": [ { "allele": "T", "end": 51, "endIntronDirection": "-", "endIntronOffset": 1669, "referenceAllele": "C", "start": 51, "startIntronDirection": "-", "startIntronOffset": 1670 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000531133.5:c.52-1670C>T" ], "proteinEffect": { "hgvs": "ENSP00000435431.1:n.52-1670C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356278" }, { "coordinates": [ { "allele": "T", "end": 89, "endIntronDirection": "-", "endIntronOffset": 1669, "referenceAllele": "C", "start": 89, "startIntronDirection": "-", "startIntronOffset": 1670 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000531797.5:c.52-1670C>T" ], "proteinEffect": { "hgvs": "ENSP00000432554.1:n.52-1670C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356831" }, { "coordinates": [ { "allele": "T", "end": 348, "endIntronDirection": "+", "endIntronOffset": 190, "referenceAllele": "C", "start": 348, "startIntronDirection": "+", "startIntronOffset": 189 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000619430.1:c.348+190C>T" ], "proteinEffect": { "hgvs": "ENSP00000478572.1:n.348+190C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS404380" }, { "@id": "http://reg.genome.network/allele/PA2825029300", "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_000062.2:c.538C>T", "LRG_105t1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_000053.2:p.Gln180Ter", "hgvsWellDefined": "NP_000053.2:p.Gln180_Ala500delinsValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006126" }, { "@id": "http://reg.genome.network/allele/PA2573178296", "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_001032295.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001027466.1:p.Gln180Ter", "hgvsWellDefined": "NP_001027466.1:p.Gln180_Ala500delinsValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009065" }, { "@id": "http://reg.genome.network/allele/PA2825029300", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_000062.3:c.538C>T" ], "proteinEffect": { "hgvs": "NP_000053.2:p.Gln180Ter", "hgvsWellDefined": "NP_000053.2:p.Gln180_Ala500delinsValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674682", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278407.9:c.538C>T" }, "RefSeq": { "hgvs": "NM_000062.3:c.538C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278407.4:p.Gln180Ter" }, "RefSeq": { "hgvs": "NP_000053.2:p.Gln180Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573178296", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_001032295.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001027466.1:p.Gln180Ter", "hgvsWellDefined": "NP_001027466.1:p.Gln180_Ala500delinsValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675763" } ], "type": "nucleotide" }