{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340165",
  "communityStandardTitle": [
    "NM_001414.4(EIF2B1):c.252+1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3376159",
        "active": true,
        "id": "COSM3376159"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19162[alleleid]",
        "alleleId": 19162,
        "preferredName": "NM_001414.4(EIF2B1):c.252+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4123",
        "RCV": [
          "RCV000004339",
          "RCV000255352",
          "RCV003492283"
        ],
        "variationId": 4123
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-124114943-C-T",
        "id": "12-124114943-C-T",
        "variant": "12:124114943 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.124114943C>T?assembly=hg19",
        "id": "chr12:g.124114943C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.123630396C>T?assembly=hg38",
        "id": "chr12:g.123630396C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994006",
        "rs": 113994006
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-124114943-C-T?dataset=gnomad_r2_1",
        "id": "12-124114943-C-T",
        "variant": "12:124114943 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-123630396-C-T?dataset=gnomad_r3",
        "id": "12-123630396-C-T",
        "variant": "12:123630396 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-123630396-C-T?dataset=gnomad_r4",
        "id": "12-123630396-C-T",
        "variant": "12:123630396 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 123630396,
          "referenceAllele": "C",
          "start": 123630395
        }
      ],
      "hgvs": [
        "NC_000012.12:g.123630396C>T",
        "CM000674.2:g.123630396C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 124114943,
          "referenceAllele": "C",
          "start": 124114942
        }
      ],
      "hgvs": [
        "NC_000012.11:g.124114943C>T",
        "CM000674.1:g.124114943C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 122680896,
          "referenceAllele": "C",
          "start": 122680895
        }
      ],
      "hgvs": [
        "NC_000012.10:g.122680896C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8381,
          "referenceAllele": "G",
          "start": 8380
        }
      ],
      "hgvs": [
        "NG_015862.1:g.8381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002886"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 381,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "ENST00000424014.7:c.252+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416250.2:n.252+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424014.7:c.252+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001414.4:c.252+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416250.2:n.252+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001405.1:n.252+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "ENST00000424014.6:c.252+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416250.2:n.252+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 383,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "ENST00000452159.6:n.383+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 299,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "ENST00000534960.5:c.299+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "ENST00000537073.1:c.252+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444183.1:n.252+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 240,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "ENST00000539951.5:c.213+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438060.1:n.213+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 352,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "ENST00000543940.1:n.352+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "NM_001414.3:c.252+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001405.1:n.252+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 381,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003257",
      "geneNCBI_id": 1967,
      "geneSymbol": "EIF2B1",
      "hgvs": [
        "NM_001414.4:c.252+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001405.1:n.252+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695290",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424014.7:c.252+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001414.4:c.252+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416250.2:n.252+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001405.1:n.252+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}