{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351756078",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.475A>G (p.Lys159Glu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=144975",
        "active": true,
        "id": "COSM144975"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=807494[alleleid]",
        "alleleId": 807494,
        "preferredName": "NM_000551.4(VHL):c.475A>G (p.Lys159Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/825149",
        "RCV": [
          "RCV001023000"
        ],
        "variationId": 825149
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10191482A>G?assembly=hg19",
        "id": "chr3:g.10191482A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10149798A>G?assembly=hg38",
        "id": "chr3:g.10149798A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1575932011",
        "rs": 1575932011
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10149798,
          "referenceAllele": "A",
          "start": 10149797
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149798A>G",
        "CM000665.2:g.10149798A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10191482,
          "referenceAllele": "A",
          "start": 10191481
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191482A>G",
        "CM000665.1:g.10191482A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10166482,
          "referenceAllele": "A",
          "start": 10166481
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166482A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13164,
          "referenceAllele": "A",
          "start": 13163
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13164A>G",
        "LRG_322:g.13164A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*152A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*152A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "A",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.611A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.586A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Lys196Glu",
        "hgvsWellDefined": "ENSP00000512444.1:p.Lys196Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.475A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Lys159Glu",
        "hgvsWellDefined": "ENSP00000256474.3:p.Lys159Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.475A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.475A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Lys159Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Lys159Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1315,
          "referenceAllele": "A",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.475A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Lys159Glu",
        "hgvsWellDefined": "ENSP00000256474.2:p.Lys159Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.352A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Lys118Glu",
        "hgvsWellDefined": "ENSP00000344757.2:p.Lys118Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "A",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.611A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108847",
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "A",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.475A>G",
        "LRG_322t1:c.475A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Lys159Glu",
        "hgvsWellDefined": "NP_000542.1:p.Lys159Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430569",
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.352A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Lys118Glu",
        "hgvsWellDefined": "NP_937799.1:p.Lys118Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "A",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*29A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*29A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108847",
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.475A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Lys159Glu",
        "hgvsWellDefined": "NP_000542.1:p.Lys159Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.475A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.475A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Lys159Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Lys159Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "referenceAllele": "A",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*29A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*29A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430569",
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "referenceAllele": "A",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.352A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Lys118Glu",
        "hgvsWellDefined": "NP_937799.1:p.Lys118Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}