{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358427396",
  "communityStandardTitle": [
    "NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1051889",
        "active": true,
        "id": "COSM1051889"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=612144[alleleid]",
        "alleleId": 612144,
        "preferredName": "NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/623200",
        "RCV": [
          "RCV000761320"
        ],
        "variationId": 623200
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.149035299G>A?assembly=hg19",
        "id": "chr4:g.149035299G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.148114148G>A?assembly=hg38",
        "id": "chr4:g.148114148G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553986377",
        "rs": 1553986377
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-148114148-G-A?dataset=gnomad_r4",
        "id": "4-148114148-G-A",
        "variant": "4:148114148 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 148114148,
          "referenceAllele": "G",
          "start": 148114147
        }
      ],
      "hgvs": [
        "NC_000004.12:g.148114148G>A",
        "CM000666.2:g.148114148G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 149035299,
          "referenceAllele": "G",
          "start": 149035298
        }
      ],
      "hgvs": [
        "NC_000004.11:g.149035299G>A",
        "CM000666.1:g.149035299G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 149254749,
          "referenceAllele": "G",
          "start": 149254748
        }
      ],
      "hgvs": [
        "NC_000004.10:g.149254749G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333374,
          "referenceAllele": "C",
          "start": 333373
        }
      ],
      "hgvs": [
        "NG_013350.1:g.333374C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002802"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3012,
          "referenceAllele": "C",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000358102.8:c.2755C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350815.3:p.Gln919Ter",
        "hgvsWellDefined": "ENSP00000350815.3:p.Gln919_Lys984delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358102.8:c.2755C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000901.5:c.2755C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350815.3:p.Gln919Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000892.2:p.Gln919Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2473,
          "referenceAllele": "C",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000342437.8:c.*138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343907.4:n.*138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2930,
          "referenceAllele": "C",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000344721.8:c.2755C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341390.4:p.Gln919Ter",
        "hgvsWellDefined": "ENSP00000341390.4:p.Gln919_Lys984delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3118,
          "referenceAllele": "C",
          "start": 3117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000358102.7:c.2755C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350815.3:p.Gln919Ter",
        "hgvsWellDefined": "ENSP00000350815.3:p.Gln919_Lys984delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2767,
          "referenceAllele": "C",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000511528.1:c.2767C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421481.1:p.Gln923Ter",
        "hgvsWellDefined": "ENSP00000421481.1:p.Gln923_Lys988delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000512865.5:c.2404C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423510.1:p.Gln802Ter",
        "hgvsWellDefined": "ENSP00000423510.1:p.Gln802_Lys867delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3130,
          "referenceAllele": "C",
          "start": 3129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000625323.2:c.2767C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486719.1:p.Gln923Ter",
        "hgvsWellDefined": "ENSP00000486719.1:p.Gln923_Lys988delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913192674",
      "coordinates": [
        {
          "allele": "T",
          "end": 3118,
          "referenceAllele": "C",
          "start": 3117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_000901.4:c.2755C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000892.2:p.Gln919Ter",
        "hgvsWellDefined": "NP_000892.2:p.Gln919_Lys984delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826018238",
      "coordinates": [
        {
          "allele": "T",
          "end": 2767,
          "referenceAllele": "C",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_001166104.1:c.2404C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159576.1:p.Gln802Ter",
        "hgvsWellDefined": "NP_001159576.1:p.Gln802_Lys867delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3130,
          "referenceAllele": "C",
          "start": 3129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "XM_011531975.1:c.2767C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530277.1:p.Gln923Ter",
        "hgvsWellDefined": "XP_011530277.1:p.Gln923_Lys988delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2942,
          "referenceAllele": "C",
          "start": 2941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "XM_011531976.1:c.2767C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530278.1:p.Gln923Ter",
        "hgvsWellDefined": "XP_011530278.1:p.Gln923_Lys988delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2848,
          "referenceAllele": "C",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "XM_011531977.1:c.2767C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530279.1:p.Gln923Ter",
        "hgvsWellDefined": "XP_011530279.1:p.Gln923_Lys988delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938908",
      "coordinates": [
        {
          "allele": "T",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_001354819.1:c.2404C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341748.1:p.Gln802Ter",
        "hgvsWellDefined": "NP_001341748.1:p.Gln802_Lys867delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2622,
          "referenceAllele": "C",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NR_148974.1:n.2622C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913192674",
      "coordinates": [
        {
          "allele": "T",
          "end": 3012,
          "referenceAllele": "C",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_000901.5:c.2755C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000892.2:p.Gln919Ter",
        "hgvsWellDefined": "NP_000892.2:p.Gln919_Lys984delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358102.8:c.2755C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000901.5:c.2755C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350815.3:p.Gln919Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000892.2:p.Gln919Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826018238",
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "C",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_001166104.2:c.2404C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159576.1:p.Gln802Ter",
        "hgvsWellDefined": "NP_001159576.1:p.Gln802_Lys867delinsArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NR_148974.2:n.2516C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704899"
    }
  ],
  "type": "nucleotide"
}