{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13588289",
  "communityStandardTitle": [
    "NC_000012.12:g.47906551C>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48300334C>G?assembly=hg19",
        "id": "chr12:g.48300334C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.47906551C>G?assembly=hg38",
        "id": "chr12:g.47906551C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7139166",
        "rs": 7139166
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-48300334-C-G?dataset=gnomad_r2_1",
        "id": "12-48300334-C-G",
        "variant": "12:48300334 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-47906551-C-G?dataset=gnomad_r3",
        "id": "12-47906551-C-G",
        "variant": "12:47906551 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-47906551-C-G?dataset=gnomad_r4",
        "id": "12-47906551-C-G",
        "variant": "12:47906551 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 47906551,
          "referenceAllele": "C",
          "start": 47906550
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47906551C>G",
        "CM000674.2:g.47906551C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 48300334,
          "referenceAllele": "C",
          "start": 48300333
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48300334C>G",
        "CM000674.1:g.48300334C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 46586601,
          "referenceAllele": "C",
          "start": 46586600
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46586601C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3481,
          "referenceAllele": "G",
          "start": 3480
        }
      ],
      "hgvs": [
        "NG_008731.1:g.3481G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 186,
          "endIntronDirection": "-",
          "endIntronOffset": 23776,
          "referenceAllele": "G",
          "start": 186,
          "startIntronDirection": "-",
          "startIntronOffset": 23777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000395324.6:c.-83-23777G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378734.2:n.-83-23777G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276630"
    }
  ],
  "type": "nucleotide"
}