{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA136918",
  "communityStandardTitle": [
    "NM_015404.4(WHRN):c.2439G>A (p.Thr813=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54840[alleleid]",
        "alleleId": 54840,
        "preferredName": "NM_015404.4(WHRN):c.2439G>A (p.Thr813=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45675",
        "RCV": [
          "RCV000038893",
          "RCV000305815",
          "RCV000391031",
          "RCV000839195"
        ],
        "variationId": 45675
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-117165599-C-T",
        "id": "9-117165599-C-T",
        "variant": "9:117165599 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.117165599C>T?assembly=hg19",
        "id": "chr9:g.117165599C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.114403319C>T?assembly=hg38",
        "id": "chr9:g.114403319C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61743618",
        "rs": 61743618
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-117165599-C-T?dataset=gnomad_r2_1",
        "id": "9-117165599-C-T",
        "variant": "9:117165599 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-114403319-C-T?dataset=gnomad_r3",
        "id": "9-114403319-C-T",
        "variant": "9:114403319 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-114403319-C-T?dataset=gnomad_r4",
        "id": "9-114403319-C-T",
        "variant": "9:114403319 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 114403319,
          "referenceAllele": "C",
          "start": 114403318
        }
      ],
      "hgvs": [
        "NC_000009.12:g.114403319C>T",
        "CM000671.2:g.114403319C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 117165599,
          "referenceAllele": "C",
          "start": 117165598
        }
      ],
      "hgvs": [
        "NC_000009.11:g.117165599C>T",
        "CM000671.1:g.117165599C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 116205420,
          "referenceAllele": "C",
          "start": 116205419
        }
      ],
      "hgvs": [
        "NC_000009.10:g.116205420C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107138,
          "referenceAllele": "G",
          "start": 107137
        }
      ],
      "hgvs": [
        "NG_016700.1:g.107138G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003250"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "ENST00000699485.1:c.783G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514396.1:p.Thr261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3111,
          "referenceAllele": "G",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "ENST00000362057.4:c.2439G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354623.3:p.Thr813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362057.4:c.2439G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015404.4:c.2439G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354623.3:p.Thr813="
          },
          "RefSeq": {
            "hgvs": "NP_056219.3:p.Thr813="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "ENST00000674036.8:c.1412G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2320,
          "referenceAllele": "G",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "ENST00000674048.1:n.2320G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "G",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "ENST00000265134.10:c.1290G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265134.6:p.Thr430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2608,
          "referenceAllele": "G",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "ENST00000362057.3:c.2439G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354623.3:p.Thr813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2320,
          "referenceAllele": "G",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "ENST00000374059.7:c.1386G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363172.3:p.Thr462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825515472",
      "coordinates": [
        {
          "allele": "A",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "NM_001083885.2:c.1290G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077354.2:p.Thr430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826086124",
      "coordinates": [
        {
          "allele": "A",
          "end": 3091,
          "referenceAllele": "G",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "NM_001173425.1:c.2436G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166896.1:p.Thr812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829823742",
      "coordinates": [
        {
          "allele": "A",
          "end": 3094,
          "referenceAllele": "G",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "NM_015404.3:c.2439G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056219.3:p.Thr813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2484,
          "referenceAllele": "G",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_005251897.3:c.1776G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251954.2:p.Thr592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3180,
          "referenceAllele": "G",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518484.1:c.2472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516786.1:p.Thr824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3028,
          "referenceAllele": "G",
          "start": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518485.1:c.2472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516787.1:p.Thr824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3177,
          "referenceAllele": "G",
          "start": 3176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518486.1:c.2469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516788.1:p.Thr823="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "referenceAllele": "G",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518487.1:c.2346G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516789.1:p.Thr782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2937,
          "referenceAllele": "G",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518488.1:c.2229G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516790.1:p.Thr743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "G",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518495.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516797.1:p.Thr383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3376,
          "referenceAllele": "G",
          "start": 3375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XR_929747.1:n.3376G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3274,
          "referenceAllele": "G",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XR_929748.1:n.3274G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827386830",
      "coordinates": [
        {
          "allele": "A",
          "end": 2417,
          "referenceAllele": "G",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "NM_001346890.1:c.1386G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333819.1:p.Thr462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2488,
          "referenceAllele": "G",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518486.2:c.2469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516788.1:p.Thr823="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2365,
          "referenceAllele": "G",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518487.2:c.2346G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516789.1:p.Thr782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2248,
          "referenceAllele": "G",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XM_011518488.2:c.2229G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516790.1:p.Thr743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2687,
          "referenceAllele": "G",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XR_929747.2:n.2687G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2585,
          "referenceAllele": "G",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "XR_929748.2:n.2585G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609277"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829823742",
      "coordinates": [
        {
          "allele": "A",
          "end": 3111,
          "referenceAllele": "G",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "NM_015404.4:c.2439G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056219.3:p.Thr813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362057.4:c.2439G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015404.4:c.2439G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354623.3:p.Thr813="
          },
          "RefSeq": {
            "hgvs": "NP_056219.3:p.Thr813="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826086124",
      "coordinates": [
        {
          "allele": "A",
          "end": 3108,
          "referenceAllele": "G",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "NM_001173425.2:c.2436G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166896.1:p.Thr812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825515472",
      "coordinates": [
        {
          "allele": "A",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016361",
      "geneNCBI_id": 25861,
      "geneSymbol": "WHRN",
      "hgvs": [
        "NM_001083885.3:c.1290G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077354.2:p.Thr430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711872"
    }
  ],
  "type": "nucleotide"
}