{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1425881451",
  "communityStandardTitle": [
    "NM_003907.3(EIF2B5):c.218T= (p.Val73=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994045",
        "rs": 113994045
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 184136634,
          "referenceAllele": "T",
          "start": 184136633
        }
      ],
      "hgvs": [
        "NC_000003.12:g.184136634T=",
        "CM000665.2:g.184136634T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 183854422,
          "referenceAllele": "T",
          "start": 183854421
        }
      ],
      "hgvs": [
        "NC_000003.11:g.183854422T=",
        "CM000665.1:g.183854422T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 185337116,
          "referenceAllele": "T",
          "start": 185337115
        }
      ],
      "hgvs": [
        "NC_000003.10:g.185337116T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6613,
          "referenceAllele": "T",
          "start": 6612
        }
      ],
      "hgvs": [
        "NG_015826.1:g.6613T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002858"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "T",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000432569.2:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414775.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "T",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000465218.3:n.241T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "referenceAllele": "T",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000468748.7:n.201T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "T",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000471832.2:c.*212T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497786.1:n.*212T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "T",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000491008.6:n.83T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000492226.2:n.215T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000647636.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497505.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "referenceAllele": "T",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000647909.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498164.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "T",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648256.1:c.167T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497356.1:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "T",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648314.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496920.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "T",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648599.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497159.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "T",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648630.1:c.212T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497887.1:p.Val71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "T",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648682.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498185.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "T",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648882.1:c.*44T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497603.1:n.*44T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "T",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648890.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497503.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "T",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648915.2:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497160.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770256",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648915.2:c.218T="
          },
          "RefSeq": {
            "hgvs": "NM_003907.3:c.218T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497160.1:p.Val73="
          },
          "RefSeq": {
            "hgvs": "NP_003898.2:p.Val73="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "T",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000649688.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497097.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 267,
          "referenceAllele": "T",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000649814.1:n.267T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "T",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000650244.1:c.363T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497227.1:n.363T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "referenceAllele": "T",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000650270.1:c.85T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "referenceAllele": "T",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000273783.7:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000273783.3:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "T",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000432569.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414775.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000432982.5:c.204T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "T",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000444495.1:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409142.1:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "T",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000471832.1:n.149T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "T",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000481054.5:n.219T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "T",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000491144.5:n.566T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 74,
          "referenceAllele": "T",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000498831.1:n.74T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334750"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068387885",
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "T",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "NM_003907.2:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "NP_003898.2:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "T",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_924208.1:n.1169T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068387885",
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "T",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "NM_003907.3:c.218T="
      ],
      "proteinEffect": {
        "hgvs": "NP_003898.2:p.Val73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648915.2:c.218T="
          },
          "RefSeq": {
            "hgvs": "NM_003907.3:c.218T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497160.1:p.Val73="
          },
          "RefSeq": {
            "hgvs": "NP_003898.2:p.Val73="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "T",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XM_011513266.3:c.-684T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511568.1:n.-684T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "T",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_001740352.2:n.581T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "T",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_001740353.2:n.581T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "T",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_924208.2:n.581T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607645"
    }
  ],
  "type": "nucleotide"
}