{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA242365700",
  "communityStandardTitle": [
    "NM_001206979.2(NR1H4):c.1078+9352G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.100943948G>A?assembly=hg19",
        "id": "chr12:g.100943948G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.100550170G>A?assembly=hg38",
        "id": "chr12:g.100550170G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10860603",
        "rs": 10860603
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-100943948-G-A?dataset=gnomad_r2_1",
        "id": "12-100943948-G-A",
        "variant": "12:100943948 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-100550170-G-A?dataset=gnomad_r3",
        "id": "12-100550170-G-A",
        "variant": "12:100550170 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-100550170-G-A?dataset=gnomad_r4",
        "id": "12-100550170-G-A",
        "variant": "12:100550170 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 100550170,
          "referenceAllele": "G",
          "start": 100550169
        }
      ],
      "hgvs": [
        "NC_000012.12:g.100550170G>A",
        "CM000674.2:g.100550170G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 100943948,
          "referenceAllele": "G",
          "start": 100943947
        }
      ],
      "hgvs": [
        "NC_000012.11:g.100943948G>A",
        "CM000674.1:g.100943948G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 99468079,
          "referenceAllele": "G",
          "start": 99468078
        }
      ],
      "hgvs": [
        "NC_000012.10:g.99468079G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81398,
          "referenceAllele": "G",
          "start": 81397
        }
      ],
      "hgvs": [
        "NG_029843.1:g.81398G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004706"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1461,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1461,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "ENST00000392986.8:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376712.3:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753080",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392986.8:c.1078+9352G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001206979.2:c.1078+9352G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376712.3:n.1078+9352G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001193908.1:n.1078+9352G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1543,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "ENST00000648861.1:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496908.1:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1124,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "ENST00000188403.7:c.1096+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000188403.7:n.1096+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1404,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "ENST00000321046.9:c.*258+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315442.5:n.*258+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1411,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "ENST00000392986.7:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376712.3:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1607,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "ENST00000548884.5:c.1066+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448506.1:n.1066+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1258,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "ENST00000549996.5:c.925+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448978.1:n.925+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1136,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "ENST00000551379.5:c.1108+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447149.1:n.1108+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1721,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1721,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206977.1:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193906.1:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1401,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206978.1:c.925+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193907.1:n.925+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1554,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206979.1:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193908.1:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1124,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206992.1:c.1096+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193921.1:n.1096+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1136,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206993.1:c.1108+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193922.1:n.1108+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1542,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_005123.3:c.1066+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005114.1:n.1066+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1325,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "XM_011539040.1:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537342.1:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 999,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "XM_011539041.1:c.955+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537343.1:n.955+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1561,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1561,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "XR_245969.2:n.1561+9352G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1547,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1547,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NR_135146.1:n.1547+9352G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2472,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 2472,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "XM_011539040.2:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537342.1:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1381,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "XM_011539041.2:c.955+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537343.1:n.955+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1461,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1461,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206979.2:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193908.1:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392986.8:c.1078+9352G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001206979.2:c.1078+9352G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376712.3:n.1078+9352G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001193908.1:n.1078+9352G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1628,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206977.2:c.1078+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193906.1:n.1078+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1308,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1308,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206978.2:c.925+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193907.1:n.925+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1124,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206992.2:c.1096+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193921.1:n.1096+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1136,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_001206993.2:c.1108+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193922.1:n.1108+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NM_005123.4:c.1066+9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005114.1:n.1066+9352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "+",
          "endIntronOffset": 9352,
          "referenceAllele": "G",
          "start": 1454,
          "startIntronDirection": "+",
          "startIntronOffset": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007967",
      "geneNCBI_id": 9971,
      "geneSymbol": "NR1H4",
      "hgvs": [
        "NR_135146.2:n.1454+9352G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703595"
    }
  ],
  "type": "nucleotide"
}