{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA824035",
  "communityStandardTitle": [
    "NM_020365.5(EIF2B3):c.407A>G (p.Gln136Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2172053",
        "active": true,
        "id": "COSM2172053"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-45407225-T-C",
        "id": "1-45407225-T-C",
        "variant": "1:45407225 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.45407225T>C?assembly=hg19",
        "id": "chr1:g.45407225T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.44941553T>C?assembly=hg38",
        "id": "chr1:g.44941553T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994023",
        "rs": 113994023
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-45407225-T-C?dataset=gnomad_r2_1",
        "id": "1-45407225-T-C",
        "variant": "1:45407225 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-44941553-T-C?dataset=gnomad_r3",
        "id": "1-44941553-T-C",
        "variant": "1:44941553 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-44941553-T-C?dataset=gnomad_r4",
        "id": "1-44941553-T-C",
        "variant": "1:44941553 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 44941553,
          "referenceAllele": "T",
          "start": 44941552
        }
      ],
      "hgvs": [
        "NC_000001.11:g.44941553T>C",
        "CM000663.2:g.44941553T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 45407225,
          "referenceAllele": "T",
          "start": 45407224
        }
      ],
      "hgvs": [
        "NC_000001.10:g.45407225T>C",
        "CM000663.1:g.45407225T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 45179812,
          "referenceAllele": "T",
          "start": 45179811
        }
      ],
      "hgvs": [
        "NC_000001.9:g.45179812T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50137,
          "referenceAllele": "A",
          "start": 50136
        }
      ],
      "hgvs": [
        "NG_015864.1:g.50137A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002888"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 519,
          "referenceAllele": "A",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "ENST00000360403.7:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353575.2:p.Gln136Arg",
        "hgvsWellDefined": "ENSP00000353575.2:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360403.7:c.407A>G"
          },
          "RefSeq": {
            "hgvs": "NM_020365.5:c.407A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353575.2:p.Gln136Arg"
          },
          "RefSeq": {
            "hgvs": "NP_065098.1:p.Gln136Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "A",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "ENST00000360403.6:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353575.2:p.Gln136Arg",
        "hgvsWellDefined": "ENSP00000353575.2:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 520,
          "referenceAllele": "A",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "ENST00000372182.6:n.520A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS268958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 511,
          "referenceAllele": "A",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "ENST00000372183.7:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361257.3:p.Gln136Arg",
        "hgvsWellDefined": "ENSP00000361257.3:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 577,
          "referenceAllele": "A",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "ENST00000477953.5:n.577A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "referenceAllele": "A",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "ENST00000480675.5:c.*87A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485842.1:n.*87A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "ENST00000620860.4:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483996.1:p.Gln136Arg",
        "hgvsWellDefined": "ENSP00000483996.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "NM_001166588.2:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160060.1:p.Gln136Arg",
        "hgvsWellDefined": "NP_001160060.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "NM_001261418.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248347.1:p.Gln136Arg",
        "hgvsWellDefined": "NP_001248347.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019960"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063912237",
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "NM_020365.4:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065098.1:p.Gln136Arg",
        "hgvsWellDefined": "NP_065098.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "A",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "XM_011542396.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540698.1:p.Gln136Arg",
        "hgvsWellDefined": "XP_011540698.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "XM_017002745.2:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858234.1:p.Gln136Arg",
        "hgvsWellDefined": "XP_016858234.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "A",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "XM_017002746.1:c.20A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858235.1:p.Gln7Arg",
        "hgvsWellDefined": "XP_016858235.1:p.Gln7Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 607,
          "referenceAllele": "A",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "XM_017002747.1:c.20A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858236.1:p.Gln7Arg",
        "hgvsWellDefined": "XP_016858236.1:p.Gln7Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063912237",
      "coordinates": [
        {
          "allele": "G",
          "end": 519,
          "referenceAllele": "A",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "NM_020365.5:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065098.1:p.Gln136Arg",
        "hgvsWellDefined": "NP_065098.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698226",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360403.7:c.407A>G"
          },
          "RefSeq": {
            "hgvs": "NM_020365.5:c.407A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353575.2:p.Gln136Arg"
          },
          "RefSeq": {
            "hgvs": "NP_065098.1:p.Gln136Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 519,
          "referenceAllele": "A",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "NM_001166588.3:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160060.1:p.Gln136Arg",
        "hgvsWellDefined": "NP_001160060.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 519,
          "referenceAllele": "A",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "NM_001261418.2:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248347.1:p.Gln136Arg",
        "hgvsWellDefined": "NP_001248347.1:p.Gln136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715014"
    }
  ],
  "type": "nucleotide"
}