{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351756183",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.503G>C (p.Ser168Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3870117[alleleid]",
        "alleleId": 3870117,
        "preferredName": "NM_000551.4(VHL):c.503G>C (p.Ser168Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3759081",
        "RCV": [
          "RCV005228509"
        ],
        "variationId": 3759081
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10191510G>C?assembly=hg19",
        "id": "chr3:g.10191510G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10149826G>C?assembly=hg38",
        "id": "chr3:g.10149826G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2125130551",
        "rs": 2125130551
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10149826,
          "referenceAllele": "G",
          "start": 10149825
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149826G>C",
        "CM000665.2:g.10149826G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10191510,
          "referenceAllele": "G",
          "start": 10191509
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191510G>C",
        "CM000665.1:g.10191510G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10166510,
          "referenceAllele": "G",
          "start": 10166509
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166510G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13192,
          "referenceAllele": "G",
          "start": 13191
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13192G>C",
        "LRG_322:g.13192G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*180G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*180G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.639G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.639G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.614G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Ser205Thr",
        "hgvsWellDefined": "ENSP00000512444.1:p.Ser205Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.503G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Ser168Thr",
        "hgvsWellDefined": "ENSP00000256474.3:p.Ser168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.503G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.503G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Ser168Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Ser168Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.503G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Ser168Thr",
        "hgvsWellDefined": "ENSP00000256474.2:p.Ser168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.380G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Ser127Thr",
        "hgvsWellDefined": "ENSP00000344757.2:p.Ser127Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.639G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069523753",
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.503G>C",
        "LRG_322t1:c.503G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Ser168Thr",
        "hgvsWellDefined": "NP_000542.1:p.Ser168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057546475",
      "coordinates": [
        {
          "allele": "C",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.380G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Ser127Thr",
        "hgvsWellDefined": "NP_937799.1:p.Ser127Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*57G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*57G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069523753",
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.503G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Ser168Thr",
        "hgvsWellDefined": "NP_000542.1:p.Ser168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.503G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.503G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Ser168Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Ser168Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*57G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*57G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057546475",
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.380G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Ser127Thr",
        "hgvsWellDefined": "NP_937799.1:p.Ser127Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}