{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1396723486",
  "communityStandardTitle": [
    "NM_003889.4(NR1I2):c.79C= (p.Pro27=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12721613",
        "rs": 12721613
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 119807329,
          "referenceAllele": "C",
          "start": 119807328
        }
      ],
      "hgvs": [
        "NC_000003.12:g.119807329C=",
        "CM000665.2:g.119807329C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 119526176,
          "referenceAllele": "C",
          "start": 119526175
        }
      ],
      "hgvs": [
        "NC_000003.11:g.119526176C=",
        "CM000665.1:g.119526176C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 121008866,
          "referenceAllele": "C",
          "start": 121008865
        }
      ],
      "hgvs": [
        "NC_000003.10:g.121008866C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31846,
          "referenceAllele": "C",
          "start": 31845
        }
      ],
      "hgvs": [
        "NG_011856.1:g.31846C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002034"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000393716.8:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377319.3:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753158",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393716.8:c.79C="
          },
          "RefSeq": {
            "hgvs": "NM_003889.4:c.79C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377319.3:p.Pro27="
          },
          "RefSeq": {
            "hgvs": "NP_003880.3:p.Pro27="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000466380.6:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420297.2:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2429,
          "referenceAllele": "C",
          "start": 2428
        }
      ],
      "hgvs": [
        "ENST00000648112.1:c.*102C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497876.1:n.*102C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000337940.4:c.196C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336528.4:p.Pro66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000393716.6:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377319.2:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000466380.5:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420297.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "ENST00000474090.1:n.367C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068372797",
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_003889.3:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003880.3:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_022002.2:c.196C="
      ],
      "proteinEffect": {
        "hgvs": "NP_071285.1:p.Pro66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_033013.2:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "NP_148934.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068372797",
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_003889.4:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003880.3:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393716.8:c.79C="
          },
          "RefSeq": {
            "hgvs": "NM_003889.4:c.79C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377319.3:p.Pro27="
          },
          "RefSeq": {
            "hgvs": "NP_003880.3:p.Pro27="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_022002.3:c.196C="
      ],
      "proteinEffect": {
        "hgvs": "NP_071285.1:p.Pro66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007968",
      "geneNCBI_id": 8856,
      "geneSymbol": "NR1I2",
      "hgvs": [
        "NM_033013.3:c.79C="
      ],
      "proteinEffect": {
        "hgvs": "NP_148934.1:p.Pro27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728900"
    }
  ],
  "type": "nucleotide"
}