{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020056",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.154G>A (p.Glu52Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1417286",
        "active": true,
        "id": "COSM1417286"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171078[alleleid]",
        "alleleId": 171078,
        "preferredName": "NM_000551.4(VHL):c.154G>A (p.Glu52Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161402",
        "RCV": [
          "RCV000148923",
          "RCV000575111",
          "RCV000227809",
          "RCV001704076",
          "RCV001843484",
          "RCV002465537",
          "RCV002467589",
          "RCV003415985"
        ],
        "variationId": 161402
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-10183685-G-A",
        "id": "3-10183685-G-A",
        "variant": "3:10183685 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10183685G>A?assembly=hg19",
        "id": "chr3:g.10183685G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10142001G>A?assembly=hg38",
        "id": "chr3:g.10142001G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373068386",
        "rs": 373068386
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10183685-G-A?dataset=gnomad_r2_1",
        "id": "3-10183685-G-A",
        "variant": "3:10183685 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10142001-G-A?dataset=gnomad_r3",
        "id": "3-10142001-G-A",
        "variant": "3:10142001 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10142001-G-A?dataset=gnomad_r4",
        "id": "3-10142001-G-A",
        "variant": "3:10142001 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10142001,
          "referenceAllele": "G",
          "start": 10142000
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142001G>A",
        "CM000665.2:g.10142001G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10183685,
          "referenceAllele": "G",
          "start": 10183684
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183685G>A",
        "CM000665.1:g.10183685G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10158685,
          "referenceAllele": "G",
          "start": 10158684
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158685G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5367,
          "referenceAllele": "G",
          "start": 5366
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5367G>A",
        "LRG_322:g.5367G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000512434.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000512435.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000512444.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000256474.3:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.154G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.154G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu52Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu52Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000256474.2:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Glu52Lys",
        "hgvsWellDefined": "ENSP00000344757.2:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108487",
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.154G>A",
        "LRG_322t1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_000542.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057072",
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_937799.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Glu52Lys",
        "hgvsWellDefined": "XP_011532380.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926670",
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_001341652.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108487",
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_000542.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.154G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.154G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu52Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu52Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926670",
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_001341652.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057072",
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.154G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu52Lys",
        "hgvsWellDefined": "NP_937799.1:p.Glu52Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}