{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6402377",
  "communityStandardTitle": [
    "NM_000552.5(VWF):c.5170+3G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=872162[alleleid]",
        "alleleId": 872162,
        "preferredName": "NM_000552.5(VWF):c.5170+3G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/881606",
        "RCV": [
          "RCV001110728"
        ],
        "variationId": 881606
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-6125917-C-T",
        "id": "12-6125917-C-T",
        "variant": "12:6125917 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6125917C>T?assembly=hg19",
        "id": "chr12:g.6125917C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6016751C>T?assembly=hg38",
        "id": "chr12:g.6016751C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/550242545",
        "rs": 550242545
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6125917-C-T?dataset=gnomad_r2_1",
        "id": "12-6125917-C-T",
        "variant": "12:6125917 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6016751-C-T?dataset=gnomad_r3",
        "id": "12-6016751-C-T",
        "variant": "12:6016751 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6016751-C-T?dataset=gnomad_r4",
        "id": "12-6016751-C-T",
        "variant": "12:6016751 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 6016751,
          "referenceAllele": "C",
          "start": 6016750
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6016751C>T",
        "CM000674.2:g.6016751C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 6125917,
          "referenceAllele": "C",
          "start": 6125916
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6125917C>T",
        "CM000674.1:g.6125917C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 5996178,
          "referenceAllele": "C",
          "start": 5996177
        }
      ],
      "hgvs": [
        "NC_000012.10:g.5996178C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112920,
          "referenceAllele": "G",
          "start": 112919
        }
      ],
      "hgvs": [
        "NG_009072.1:g.112920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112920,
          "referenceAllele": "G",
          "start": 112919
        }
      ],
      "hgvs": [
        "NG_009072.2:g.112920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733320"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5420,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5420,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000261405.10:c.5170+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261405.5:n.5170+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261405.10:c.5170+3G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000552.5:c.5170+3G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261405.5:n.5170+3G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000543.3:n.5170+3G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5425,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5425,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000261405.9:c.5170+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261405.5:n.5170+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "endIntronDirection": "-",
          "endIntronOffset": 22816,
          "referenceAllele": "G",
          "start": 420,
          "startIntronDirection": "-",
          "startIntronOffset": 22817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000538635.5:n.421-22817G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5420,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5420,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.3:c.5170+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.2:n.5170+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5425,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5425,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.4:c.5170+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.2:n.5170+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5420,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5420,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.5:c.5170+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.3:n.5170+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261405.10:c.5170+3G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000552.5:c.5170+3G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261405.5:n.5170+3G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000543.3:n.5170+3G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}