{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA383498252",
  "communityStandardTitle": [
    "NM_000552.5(VWF):c.1607T>C (p.Leu536Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615510[alleleid]",
        "alleleId": 615510,
        "preferredName": "NM_000552.5(VWF):c.1607T>C (p.Leu536Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627250",
        "RCV": [
          "RCV000852041",
          "RCV002264736"
        ],
        "variationId": 627250
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6167137A>G?assembly=hg19",
        "id": "chr12:g.6167137A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6057971A>G?assembly=hg38",
        "id": "chr12:g.6057971A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1591890769",
        "rs": 1591890769
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6057971-A-G?dataset=gnomad_r3",
        "id": "12-6057971-A-G",
        "variant": "12:6057971 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6057971-A-G?dataset=gnomad_r4",
        "id": "12-6057971-A-G",
        "variant": "12:6057971 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 6057971,
          "referenceAllele": "A",
          "start": 6057970
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6057971A>G",
        "CM000674.2:g.6057971A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 6167137,
          "referenceAllele": "A",
          "start": 6167136
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6167137A>G",
        "CM000674.1:g.6167137A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 6037398,
          "referenceAllele": "A",
          "start": 6037397
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6037398A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71700,
          "referenceAllele": "T",
          "start": 71699
        }
      ],
      "hgvs": [
        "NG_009072.1:g.71700T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71700,
          "referenceAllele": "T",
          "start": 71699
        }
      ],
      "hgvs": [
        "NG_009072.2:g.71700T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733320"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1857,
          "referenceAllele": "T",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000261405.10:c.1607T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261405.5:p.Leu536Pro",
        "hgvsWellDefined": "ENSP00000261405.5:p.Leu536Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261405.10:c.1607T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000552.5:c.1607T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261405.5:p.Leu536Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000543.3:p.Leu536Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1862,
          "referenceAllele": "T",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000261405.9:c.1607T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261405.5:p.Leu536Pro",
        "hgvsWellDefined": "ENSP00000261405.5:p.Leu536Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 52544,
          "referenceAllele": "T",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 52543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "ENST00000538635.5:n.420+52544T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915960530",
      "coordinates": [
        {
          "allele": "C",
          "end": 1857,
          "referenceAllele": "T",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.3:c.1607T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.2:p.Leu536Pro",
        "hgvsWellDefined": "NP_000543.2:p.Leu536Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915960530",
      "coordinates": [
        {
          "allele": "C",
          "end": 1862,
          "referenceAllele": "T",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.4:c.1607T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.2:p.Leu536Pro",
        "hgvsWellDefined": "NP_000543.2:p.Leu536Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510812"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573063164",
      "coordinates": [
        {
          "allele": "C",
          "end": 1857,
          "referenceAllele": "T",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NM_000552.5:c.1607T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000543.3:p.Leu536Pro",
        "hgvsWellDefined": "NP_000543.3:p.Leu536Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261405.10:c.1607T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000552.5:c.1607T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261405.5:p.Leu536Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000543.3:p.Leu536Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}