{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA383522074",
  "communityStandardTitle": [
    "NM_000552.5(VWF):c.2385T>G (p.Tyr795Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6153514A>C?assembly=hg19",
        "id": "chr12:g.6153514A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6044348A>C?assembly=hg38",
        "id": "chr12:g.6044348A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1063857",
        "rs": 1063857
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 6044348,
          "referenceAllele": "A",
          "start": 6044347
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6044348A>C",
        "CM000674.2:g.6044348A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 6153514,
          "referenceAllele": "A",
          "start": 6153513
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6153514A>C",
        "CM000674.1:g.6153514A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 6023775,
          "referenceAllele": "A",
          "start": 6023774
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6023775A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85323,
          "referenceAllele": "T",
          "start": 85322
        }
      ],
      "hgvs": [
        "NG_009072.1:g.85323T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85323,
          "referenceAllele": "T",
          "start": 85322
        }
      ],
      "hgvs": [
        "NG_009072.2:g.85323T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733320"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2635,
          "referenceAllele": "T",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000261405.10:c.2385T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261405.5:p.Tyr795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261405.10:c.2385T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000552.5:c.2385T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261405.5:p.Tyr795Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000543.3:p.Tyr795Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2640,
          "referenceAllele": "T",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000261405.9:c.2385T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261405.5:p.Tyr795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "endIntronDirection": "-",
          "endIntronOffset": 50413,
          "referenceAllele": "T",
          "start": 420,
          "startIntronDirection": "-",
          "startIntronOffset": 50414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000538635.5:n.421-50414T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2635,
          "referenceAllele": "T",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.3:c.2385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.2:p.Tyr795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2640,
          "referenceAllele": "T",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.4:c.2385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.2:p.Tyr795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2635,
          "referenceAllele": "T",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.5:c.2385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.3:p.Tyr795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261405.10:c.2385T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000552.5:c.2385T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261405.5:p.Tyr795Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000543.3:p.Tyr795Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}