{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1637678",
  "communityStandardTitle": [
    "NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=586372[alleleid]",
        "alleleId": 586372,
        "preferredName": "NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/595310",
        "RCV": [
          "RCV000730825",
          "RCV001816800",
          "RCV002406665",
          "RCV001143788"
        ],
        "variationId": 595310
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44104782-T-C",
        "id": "2-44104782-T-C",
        "variant": "2:44104782 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44104782T>C?assembly=hg19",
        "id": "chr2:g.44104782T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43877643T>C?assembly=hg38",
        "id": "chr2:g.43877643T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147582834",
        "rs": 147582834
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44104782-T-C?dataset=gnomad_r2_1",
        "id": "2-44104782-T-C",
        "variant": "2:44104782 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43877643-T-C?dataset=gnomad_r3",
        "id": "2-43877643-T-C",
        "variant": "2:43877643 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43877643-T-C?dataset=gnomad_r4",
        "id": "2-43877643-T-C",
        "variant": "2:43877643 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 43877643,
          "referenceAllele": "T",
          "start": 43877642
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43877643T>C",
        "CM000664.2:g.43877643T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 44104782,
          "referenceAllele": "T",
          "start": 44104781
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44104782T>C",
        "CM000664.1:g.44104782T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 43958286,
          "referenceAllele": "T",
          "start": 43958285
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43958286T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43680,
          "referenceAllele": "T",
          "start": 43679
        }
      ],
      "hgvs": [
        "NG_008884.1:g.43680T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50702,
          "referenceAllele": "T",
          "start": 50701
        }
      ],
      "hgvs": [
        "NG_008884.2:g.50702T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1922,
          "referenceAllele": "T",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.4:c.1839T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Tyr613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.1839T>C"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.1839T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Tyr613="
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Tyr613="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1929,
          "referenceAllele": "T",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.2:c.1839T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Tyr613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829997086",
      "coordinates": [
        {
          "allele": "C",
          "end": 1929,
          "referenceAllele": "T",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.2:c.1839T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Tyr613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1925,
          "referenceAllele": "T",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_005264483.2:c.1836T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264540.1:p.Tyr612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2341,
          "referenceAllele": "T",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.1851T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Tyr617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2339,
          "referenceAllele": "T",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.1848T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Tyr616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3619,
          "referenceAllele": "T",
          "start": 3618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.1623T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:p.Tyr541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2341,
          "referenceAllele": "T",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.2341T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828053013",
      "coordinates": [
        {
          "allele": "C",
          "end": 1926,
          "referenceAllele": "T",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.1:c.1836T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Tyr612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2496,
          "referenceAllele": "T",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.1851T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Tyr617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2338,
          "referenceAllele": "T",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.1848T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Tyr616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2355,
          "referenceAllele": "T",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.2355T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2355,
          "referenceAllele": "T",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.2355T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829997086",
      "coordinates": [
        {
          "allele": "C",
          "end": 1922,
          "referenceAllele": "T",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.1839T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Tyr613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.1839T>C"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.1839T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Tyr613="
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Tyr613="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828053013",
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "T",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.1836T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Tyr612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}