{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114168",
  "communityStandardTitle": [
    "NM_000552.5(VWF):c.2411G>T (p.Cys804Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15352[alleleid]",
        "alleleId": 15352,
        "preferredName": "NM_000552.5(VWF):c.2411G>T (p.Cys804Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/313",
        "RCV": [
          "RCV000000341",
          "RCV000086609"
        ],
        "variationId": 313
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6153488C>A?assembly=hg19",
        "id": "chr12:g.6153488C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6044322C>A?assembly=hg38",
        "id": "chr12:g.6044322C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62643630",
        "rs": 62643630
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6044322,
          "referenceAllele": "C",
          "start": 6044321
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6044322C>A",
        "CM000674.2:g.6044322C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6153488,
          "referenceAllele": "C",
          "start": 6153487
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6153488C>A",
        "CM000674.1:g.6153488C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6023749,
          "referenceAllele": "C",
          "start": 6023748
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6023749C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85349,
          "referenceAllele": "G",
          "start": 85348
        }
      ],
      "hgvs": [
        "NG_009072.1:g.85349G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85349,
          "referenceAllele": "G",
          "start": 85348
        }
      ],
      "hgvs": [
        "NG_009072.2:g.85349G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733320"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "G",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000261405.10:c.2411G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261405.5:p.Cys804Phe",
        "hgvsWellDefined": "ENSP00000261405.5:p.Cys804Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261405.10:c.2411G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000552.5:c.2411G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261405.5:p.Cys804Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000543.3:p.Cys804Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000261405.9:c.2411G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261405.5:p.Cys804Phe",
        "hgvsWellDefined": "ENSP00000261405.5:p.Cys804Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "endIntronDirection": "-",
          "endIntronOffset": 50387,
          "referenceAllele": "G",
          "start": 420,
          "startIntronDirection": "-",
          "startIntronOffset": 50388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000538635.5:n.421-50388G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114169",
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "G",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.3:c.2411G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.2:p.Cys804Phe",
        "hgvsWellDefined": "NP_000543.2:p.Cys804Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114169",
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.4:c.2411G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.2:p.Cys804Phe",
        "hgvsWellDefined": "NP_000543.2:p.Cys804Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510812"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573063212",
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "G",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.5:c.2411G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.3:p.Cys804Phe",
        "hgvsWellDefined": "NP_000543.3:p.Cys804Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261405.10:c.2411G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000552.5:c.2411G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261405.5:p.Cys804Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000543.3:p.Cys804Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}