{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2557866",
  "communityStandardTitle": [
    "NM_003889.4(NR1I2):c.488A>G (p.Asp163Gly)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-119530542-A-G",
        "id": "3-119530542-A-G",
        "variant": "3:119530542 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.119530542A>G?assembly=hg19",
        "id": "chr3:g.119530542A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.119811695A>G?assembly=hg38",
        "id": "chr3:g.119811695A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72551374",
        "rs": 72551374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119530542-A-G?dataset=gnomad_r2_1",
        "id": "3-119530542-A-G",
        "variant": "3:119530542 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119811695-A-G?dataset=gnomad_r3",
        "id": "3-119811695-A-G",
        "variant": "3:119811695 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119811695-A-G?dataset=gnomad_r4",
        "id": "3-119811695-A-G",
        "variant": "3:119811695 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 119811695,
          "referenceAllele": "A",
          "start": 119811694
        }
      ],
      "hgvs": [
        "NC_000003.12:g.119811695A>G",
        "CM000665.2:g.119811695A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 119530542,
          "referenceAllele": "A",
          "start": 119530541
        }
      ],
      "hgvs": [
        "NC_000003.11:g.119530542A>G",
        "CM000665.1:g.119530542A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 121013232,
          "referenceAllele": "A",
          "start": 121013231
        }
      ],
      "hgvs": [
        "NC_000003.10:g.121013232A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36212,
          "referenceAllele": "A",
          "start": 36211
        }
      ],
      "hgvs": [
        "NG_011856.1:g.36212A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002034"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000393716.8:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377319.3:p.Asp163Gly",
        "hgvsWellDefined": "ENSP00000377319.3:p.Asp163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753158",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393716.8:c.488A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003889.4:c.488A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377319.3:p.Asp163Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003880.3:p.Asp163Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2327,
          "referenceAllele": "A",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000466380.6:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420297.2:p.Asp163Gly",
        "hgvsWellDefined": "ENSP00000420297.2:p.Asp163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "A",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000337940.4:c.605A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336528.4:p.Asp202Gly",
        "hgvsWellDefined": "ENSP00000336528.4:p.Asp202Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2327,
          "referenceAllele": "A",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000393716.6:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377319.2:p.Asp163Gly",
        "hgvsWellDefined": "ENSP00000377319.2:p.Asp163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2327,
          "referenceAllele": "A",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000466380.5:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420297.1:p.Asp163Gly",
        "hgvsWellDefined": "ENSP00000420297.1:p.Asp163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000493757.1:n.620A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068379739",
      "coordinates": [
        {
          "allele": "G",
          "end": 2327,
          "referenceAllele": "A",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_003889.3:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003880.3:p.Asp163Gly",
        "hgvsWellDefined": "NP_003880.3:p.Asp163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "A",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_022002.2:c.605A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071285.1:p.Asp202Gly",
        "hgvsWellDefined": "NP_071285.1:p.Asp202Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2327,
          "referenceAllele": "A",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_033013.2:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_148934.1:p.Asp163Gly",
        "hgvsWellDefined": "NP_148934.1:p.Asp163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068379739",
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_003889.4:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003880.3:p.Asp163Gly",
        "hgvsWellDefined": "NP_003880.3:p.Asp163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393716.8:c.488A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003889.4:c.488A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377319.3:p.Asp163Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003880.3:p.Asp163Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "A",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_022002.3:c.605A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071285.1:p.Asp202Gly",
        "hgvsWellDefined": "NP_071285.1:p.Asp202Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_033013.3:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_148934.1:p.Asp163Gly",
        "hgvsWellDefined": "NP_148934.1:p.Asp163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728900"
    }
  ],
  "type": "nucleotide"
}