{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA358428661", "communityStandardTitle": [ "NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3600797", "active": true, "id": "COSM3600797" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421477[alleleid]", "alleleId": 421477, "preferredName": "NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430357", "RCV": [ "RCV000493937", "RCV001332610", "RCV001535946", "RCV004535554" ], "variationId": 430357 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.149115960G>A?assembly=hg19", "id": "chr4:g.149115960G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.148194809G>A?assembly=hg38", "id": "chr4:g.148194809G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1131691921", "rs": 1131691921 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-148194809-G-A?dataset=gnomad_r4", "id": "4-148194809-G-A", "variant": "4:148194809 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 148194809, "referenceAllele": "G", "start": 148194808 } ], "hgvs": [ "NC_000004.12:g.148194809G>A", "CM000666.2:g.148194809G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 149115960, "referenceAllele": "G", "start": 149115959 } ], "hgvs": [ "NC_000004.11:g.149115960G>A", "CM000666.1:g.149115960G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 149335410, "referenceAllele": "G", "start": 149335409 } ], "hgvs": [ "NC_000004.10:g.149335410G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 252713, "referenceAllele": "C", "start": 252712 } ], "hgvs": [ "NG_013350.1:g.252713C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002802" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2208, "referenceAllele": "C", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000358102.8:c.1951C>T" ], "proteinEffect": { "hgvs": "ENSP00000350815.3:p.Arg651Ter", "hgvsWellDefined": "ENSP00000350815.3:p.Arg652_Lys984delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749025", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358102.8:c.1951C>T" }, "RefSeq": { "hgvs": "NM_000901.5:c.1951C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350815.3:p.Arg651Ter" }, "RefSeq": { "hgvs": "NP_000892.2:p.Arg651Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2165, "referenceAllele": "C", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000342437.8:c.1951C>T" ], "proteinEffect": { "hgvs": "ENSP00000343907.4:p.Arg651Ter", "hgvsWellDefined": "ENSP00000343907.4:p.Arg652_Ser706delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGluArgArgCysIleSerLeuProCysMetAsnTyrAlaArgGlyCysThrLysSerAlaPheSerSerPheAspCysSerSerProLeuLysAsnThrProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261554" }, { "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000344721.8:c.1951C>T" ], "proteinEffect": { "hgvs": "ENSP00000341390.4:p.Arg651Ter", "hgvsWellDefined": "ENSP00000341390.4:p.Arg652_Lys984delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262039" }, { "coordinates": [ { "allele": "T", "end": 2314, "referenceAllele": "C", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000358102.7:c.1951C>T" ], "proteinEffect": { "hgvs": "ENSP00000350815.3:p.Arg651Ter", "hgvsWellDefined": "ENSP00000350815.3:p.Arg652_Lys984delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264335" }, { "coordinates": [ { "allele": "T", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000503313.1:n.148C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS335657" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000504753.1:n.400C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS336722" }, { "coordinates": [ { "allele": "T", "end": 1963, "referenceAllele": "C", "start": 1962 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000511528.1:c.1963C>T" ], "proteinEffect": { "hgvs": "ENSP00000421481.1:p.Arg655Ter", "hgvsWellDefined": "ENSP00000421481.1:p.Arg656_Lys988delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341776" }, { "coordinates": [ { "allele": "T", "end": 2018, "referenceAllele": "C", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000512865.5:c.1951C>T" ], "proteinEffect": { "hgvs": "ENSP00000423510.1:p.Arg651Ter", "hgvsWellDefined": "ENSP00000423510.1:p.Arg652_Lys867delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342759" }, { "coordinates": [ { "allele": "T", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000625323.2:c.1963C>T" ], "proteinEffect": { "hgvs": "ENSP00000486719.1:p.Arg655Ter", "hgvsWellDefined": "ENSP00000486719.1:p.Arg656_Lys988delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406569" }, { "@id": "http://reg.genome.network/allele/PA645492937", "coordinates": [ { "allele": "T", "end": 2314, "referenceAllele": "C", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_000901.4:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_000892.2:p.Arg651Ter", "hgvsWellDefined": "NP_000892.2:p.Arg652_Lys984delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006927" }, { "@id": "http://reg.genome.network/allele/PA2826018221", "coordinates": [ { "allele": "T", "end": 2314, "referenceAllele": "C", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001166104.1:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_001159576.1:p.Arg651Ter", "hgvsWellDefined": "NP_001159576.1:p.Arg652_Lys867delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014790" }, { "coordinates": [ { "allele": "T", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531975.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011530277.1:p.Arg655Ter", "hgvsWellDefined": "XP_011530277.1:p.Arg656_Lys988delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099004" }, { "coordinates": [ { "allele": "T", "end": 2138, "referenceAllele": "C", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531976.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011530278.1:p.Arg655Ter", "hgvsWellDefined": "XP_011530278.1:p.Arg656_Lys988delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099005" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "C", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531977.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011530279.1:p.Arg655Ter", "hgvsWellDefined": "XP_011530279.1:p.Arg656_Lys988delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099006" }, { "coordinates": [ { "allele": "T", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531978.1:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011530280.1:p.Arg655Ter", "hgvsWellDefined": "XP_011530280.1:p.Arg656_Gly849delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099007" }, { "@id": "http://reg.genome.network/allele/PA916039480", "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001354819.1:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_001341748.1:p.Arg651Ter", "hgvsWellDefined": "NP_001341748.1:p.Arg652_Lys867delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522703" }, { "coordinates": [ { "allele": "T", "end": 2314, "referenceAllele": "C", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NR_148974.1:n.2314C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531419" }, { "coordinates": [ { "allele": "T", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531978.2:c.1963C>T" ], "proteinEffect": { "hgvs": "XP_011530280.1:p.Arg655Ter", "hgvsWellDefined": "XP_011530280.1:p.Arg656_Gly849delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550644" }, { "@id": "http://reg.genome.network/allele/PA645492937", "coordinates": [ { "allele": "T", "end": 2208, "referenceAllele": "C", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_000901.5:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_000892.2:p.Arg651Ter", "hgvsWellDefined": "NP_000892.2:p.Arg652_Lys984delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358102.8:c.1951C>T" }, "RefSeq": { "hgvs": "NM_000901.5:c.1951C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350815.3:p.Arg651Ter" }, "RefSeq": { "hgvs": "NP_000892.2:p.Arg651Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826018221", "coordinates": [ { "allele": "T", "end": 2208, "referenceAllele": "C", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001166104.2:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_001159576.1:p.Arg651Ter", "hgvsWellDefined": "NP_001159576.1:p.Arg652_Lys867delinsLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678459" }, { "coordinates": [ { "allele": "T", "end": 2208, "referenceAllele": "C", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NR_148974.2:n.2208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704899" } ], "type": "nucleotide" }