{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1636732",
  "communityStandardTitle": [
    "NM_022436.3(ABCG5):c.265+10G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272329[alleleid]",
        "alleleId": 272329,
        "preferredName": "NM_022436.3(ABCG5):c.265+10G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288092",
        "RCV": [
          "RCV000285579",
          "RCV001424239"
        ],
        "variationId": 288092
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44064963-C-T",
        "id": "2-44064963-C-T",
        "variant": "2:44064963 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44064963C>T?assembly=hg19",
        "id": "chr2:g.44064963C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43837824C>T?assembly=hg38",
        "id": "chr2:g.43837824C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140341571",
        "rs": 140341571
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44064963-C-T?dataset=gnomad_r2_1",
        "id": "2-44064963-C-T",
        "variant": "2:44064963 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43837824-C-T?dataset=gnomad_r3",
        "id": "2-43837824-C-T",
        "variant": "2:43837824 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43837824-C-T?dataset=gnomad_r4",
        "id": "2-43837824-C-T",
        "variant": "2:43837824 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 43837824,
          "referenceAllele": "C",
          "start": 43837823
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43837824C>T",
        "CM000664.2:g.43837824C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 44064963,
          "referenceAllele": "C",
          "start": 44064962
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44064963C>T",
        "CM000664.1:g.44064963C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 43918467,
          "referenceAllele": "C",
          "start": 43918466
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43918467C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5996,
          "referenceAllele": "G",
          "start": 5995
        }
      ],
      "hgvs": [
        "NG_008883.1:g.5996G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3861,
          "referenceAllele": "C",
          "start": 3860
        }
      ],
      "hgvs": [
        "NG_008884.1:g.3861C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10883,
          "referenceAllele": "C",
          "start": 10882
        }
      ],
      "hgvs": [
        "NG_008884.2:g.10883C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000405322.8:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384513.2:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.265+10G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.265+10G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:n.265+10G>A"
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:n.265+10G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 520,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000643284.1:n.520+5163C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 720,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000644611.1:c.75+5163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495423.1:n.75+5163C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 919,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000644754.1:n.919+10G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000260645.5:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260645.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 919,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000405322.5:c.22+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384513.1:n.22+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1032,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000409962.1:c.22+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386501.1:n.22+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 917,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000486512.5:c.22+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430935.1:n.22+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.2:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_005264480.2:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264537.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 403,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.2:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712074.2:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712137.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.1:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531326.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 951,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 951,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.1:c.22+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:n.22+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.1:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1032,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.1:c.-13+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:n.-13+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.75+5163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:n.75+5163C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.75+5163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:n.75+5163C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1843,
          "endIntronDirection": "-",
          "endIntronOffset": 6682,
          "referenceAllele": "C",
          "start": 1843,
          "startIntronDirection": "-",
          "startIntronOffset": 6683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.-153-6683C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:n.-153-6683C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.565+5163C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_005264480.4:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264537.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.3:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712074.3:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712137.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.2:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531326.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 926,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.3:c.22+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:n.22+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.2:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1007,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.3:c.-13+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:n.-13+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 720,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.75+5163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:n.75+5163C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.75+5163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:n.75+5163C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.579+5163C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 5163,
          "referenceAllele": "C",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.579+5163C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.3:c.265+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:n.265+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.265+10G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.265+10G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:n.265+10G>A"
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:n.265+10G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}