{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351756560",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.596A>G (p.Glu199Gly)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6191627",
        "active": true,
        "id": "COSM6191627"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=827297[alleleid]",
        "alleleId": 827297,
        "preferredName": "NM_000551.4(VHL):c.596A>G (p.Glu199Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/848927",
        "RCV": [
          "RCV001052780",
          "RCV004000055"
        ],
        "variationId": 848927
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10191603A>G?assembly=hg19",
        "id": "chr3:g.10191603A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10149919A>G?assembly=hg38",
        "id": "chr3:g.10149919A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760690217",
        "rs": 760690217
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10149919-A-G?dataset=gnomad_r4",
        "id": "3-10149919-A-G",
        "variant": "3:10149919 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10149919,
          "referenceAllele": "A",
          "start": 10149918
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149919A>G",
        "CM000665.2:g.10149919A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10191603,
          "referenceAllele": "A",
          "start": 10191602
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191603A>G",
        "CM000665.1:g.10191603A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10166603,
          "referenceAllele": "A",
          "start": 10166602
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166603A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13285,
          "referenceAllele": "A",
          "start": 13284
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13285A>G",
        "LRG_322:g.13285A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 917,
          "referenceAllele": "A",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*273A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*273A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 732,
          "referenceAllele": "A",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.732A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.732A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 777,
          "referenceAllele": "A",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.707A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Glu236Gly",
        "hgvsWellDefined": "ENSP00000512444.1:p.Glu236Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "A",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.596A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Glu199Gly",
        "hgvsWellDefined": "ENSP00000256474.3:p.Glu199Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.596A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.596A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu199Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu199Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1436,
          "referenceAllele": "A",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.596A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Glu199Gly",
        "hgvsWellDefined": "ENSP00000256474.2:p.Glu199Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "A",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.473A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Glu158Gly",
        "hgvsWellDefined": "ENSP00000344757.2:p.Glu158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 732,
          "referenceAllele": "A",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.732A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668133",
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.596A>G",
        "LRG_322t1:c.596A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu199Gly",
        "hgvsWellDefined": "NP_000542.1:p.Glu199Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430965",
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.473A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu158Gly",
        "hgvsWellDefined": "NP_937799.1:p.Glu158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 945,
          "referenceAllele": "A",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*150A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*150A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668133",
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "A",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.596A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu199Gly",
        "hgvsWellDefined": "NP_000542.1:p.Glu199Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.596A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.596A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu199Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu199Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "A",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*150A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*150A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430965",
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.473A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu158Gly",
        "hgvsWellDefined": "NP_937799.1:p.Glu158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}