{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8539374",
  "communityStandardTitle": [
    "NM_021724.5(NR1D1):c.1646-13G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2838643",
        "active": true,
        "id": "COSM2838643"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3185674[alleleid]",
        "alleleId": 3185674,
        "preferredName": "NM_021724.5(NR1D1):c.1646-13G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3025362",
        "RCV": [
          "RCV003886238"
        ],
        "variationId": 3025362
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-38249548-C-T",
        "id": "17-38249548-C-T",
        "variant": "17:38249548 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.38249548C>T?assembly=hg19",
        "id": "chr17:g.38249548C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40093295C>T?assembly=hg38",
        "id": "chr17:g.40093295C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149579879",
        "rs": 149579879
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-38249548-C-T?dataset=gnomad_r2_1",
        "id": "17-38249548-C-T",
        "variant": "17:38249548 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40093295-C-T?dataset=gnomad_r3",
        "id": "17-40093295-C-T",
        "variant": "17:40093295 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40093295-C-T?dataset=gnomad_r4",
        "id": "17-40093295-C-T",
        "variant": "17:40093295 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 40093295,
          "referenceAllele": "C",
          "start": 40093294
        }
      ],
      "hgvs": [
        "NC_000017.11:g.40093295C>T",
        "CM000679.2:g.40093295C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 38249548,
          "referenceAllele": "C",
          "start": 38249547
        }
      ],
      "hgvs": [
        "NC_000017.10:g.38249548C>T",
        "CM000679.1:g.38249548C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 35503074,
          "referenceAllele": "C",
          "start": 35503073
        }
      ],
      "hgvs": [
        "NC_000017.9:g.35503074C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36103,
          "referenceAllele": "C",
          "start": 36102
        }
      ],
      "hgvs": [
        "NG_023345.1:g.36103C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12431,
          "referenceAllele": "G",
          "start": 12430
        }
      ],
      "hgvs": [
        "NG_033084.1:g.12431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005416"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2140,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "G",
          "start": 2140,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007962",
      "geneNCBI_id": 9572,
      "geneSymbol": "NR1D1",
      "hgvs": [
        "ENST00000246672.4:c.1646-13G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246672.3:n.1646-13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246672.4:c.1646-13G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021724.5:c.1646-13G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246672.3:n.1646-13G>A"
          },
          "RefSeq": {
            "hgvs": "NP_068370.1:n.1646-13G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "G",
          "start": 2276,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007962",
      "geneNCBI_id": 9572,
      "geneSymbol": "NR1D1",
      "hgvs": [
        "ENST00000246672.3:c.1646-13G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246672.3:n.1646-13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "C",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "ENST00000264637.8:c.1386C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264637.4:p.Asp462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "ENST00000394121.8:c.1386C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377679.4:p.Asp462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "ENST00000584985.5:c.1269C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463466.1:p.Asp423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826169112",
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "NM_001190918.1:c.1269C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177847.1:p.Asp423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826169152",
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "NM_001190919.1:c.1386C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177848.1:p.Asp462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426819",
      "coordinates": [
        {
          "allele": "T",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "NM_003250.5:c.1386C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003241.2:p.Asp462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "G",
          "start": 2276,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007962",
      "geneNCBI_id": 9572,
      "geneSymbol": "NR1D1",
      "hgvs": [
        "NM_021724.4:c.1646-13G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068370.1:n.1646-13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2140,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "G",
          "start": 2140,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007962",
      "geneNCBI_id": 9572,
      "geneSymbol": "NR1D1",
      "hgvs": [
        "NM_021724.5:c.1646-13G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068370.1:n.1646-13G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246672.4:c.1646-13G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021724.5:c.1646-13G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246672.3:n.1646-13G>A"
          },
          "RefSeq": {
            "hgvs": "NP_068370.1:n.1646-13G>A"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826169112",
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "NM_001190918.2:c.1269C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177847.1:p.Asp423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426819",
      "coordinates": [
        {
          "allele": "T",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "NM_003250.6:c.1386C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003241.2:p.Asp462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826169152",
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011796",
      "geneNCBI_id": 7067,
      "geneSymbol": "THRA",
      "hgvs": [
        "NM_001190919.2:c.1386C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177848.1:p.Asp462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713696"
    }
  ],
  "type": "nucleotide"
}