{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10376380",
  "communityStandardTitle": [
    "NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=706206[alleleid]",
        "alleleId": 706206,
        "preferredName": "NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/774369",
        "RCV": [
          "RCV002546047",
          "RCV003768918"
        ],
        "variationId": 774369
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-30326936-C-G",
        "id": "X-30326936-C-G",
        "variant": "X:30326936 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.30326936C>G?assembly=hg19",
        "id": "chrX:g.30326936C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.30308819C>G?assembly=hg38",
        "id": "chrX:g.30308819C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761749382",
        "rs": 761749382
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-30326936-C-G?dataset=gnomad_r2_1",
        "id": "X-30326936-C-G",
        "variant": "X:30326936 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-30308819-C-G?dataset=gnomad_r3",
        "id": "X-30308819-C-G",
        "variant": "X:30308819 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-30308819-C-G?dataset=gnomad_r4",
        "id": "X-30308819-C-G",
        "variant": "X:30308819 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 30308819,
          "referenceAllele": "C",
          "start": 30308818
        }
      ],
      "hgvs": [
        "NC_000023.11:g.30308819C>G",
        "CM000685.2:g.30308819C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 30326936,
          "referenceAllele": "C",
          "start": 30326935
        }
      ],
      "hgvs": [
        "NC_000023.10:g.30326936C>G",
        "CM000685.1:g.30326936C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 30236857,
          "referenceAllele": "C",
          "start": 30236856
        }
      ],
      "hgvs": [
        "NC_000023.9:g.30236857C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5560,
          "referenceAllele": "G",
          "start": 5559
        }
      ],
      "hgvs": [
        "NG_009814.1:g.5560G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "ENST00000378970.5:c.545G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368253.4:p.Gly182Ala",
        "hgvsWellDefined": "ENSP00000368253.4:p.Gly182Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378970.5:c.545G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000475.5:c.545G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368253.4:p.Gly182Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000466.2:p.Gly182Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "ENST00000378970.4:c.545G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368253.4:p.Gly182Ala",
        "hgvsWellDefined": "ENSP00000368253.4:p.Gly182Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955469",
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "NM_000475.4:c.545G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000466.2:p.Gly182Ala",
        "hgvsWellDefined": "NP_000466.2:p.Gly182Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955469",
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "NM_000475.5:c.545G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000466.2:p.Gly182Ala",
        "hgvsWellDefined": "NP_000466.2:p.Gly182Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674859",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378970.5:c.545G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000475.5:c.545G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368253.4:p.Gly182Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000466.2:p.Gly182Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}