{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA185978",
  "communityStandardTitle": [
    "NM_003755.5(EIF3G):c.596-260T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178889[alleleid]",
        "alleleId": 178889,
        "preferredName": "NM_003755.5(EIF3G):c.596-260T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180730",
        "RCV": [
          "RCV000161133"
        ],
        "variationId": 180730
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.10227010A>G?assembly=hg19",
        "id": "chr19:g.10227010A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.10116334A>G?assembly=hg38",
        "id": "chr19:g.10116334A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3826784",
        "rs": 3826784
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-10227010-A-G?dataset=gnomad_r2_1",
        "id": "19-10227010-A-G",
        "variant": "19:10227010 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-10116334-A-G?dataset=gnomad_r3",
        "id": "19-10116334-A-G",
        "variant": "19:10116334 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-10116334-A-G?dataset=gnomad_r4",
        "id": "19-10116334-A-G",
        "variant": "19:10116334 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 10116334,
          "referenceAllele": "A",
          "start": 10116333
        }
      ],
      "hgvs": [
        "NC_000019.10:g.10116334A>G",
        "CM000681.2:g.10116334A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 10227010,
          "referenceAllele": "A",
          "start": 10227009
        }
      ],
      "hgvs": [
        "NC_000019.9:g.10227010A>G",
        "CM000681.1:g.10227010A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 10088010,
          "referenceAllele": "A",
          "start": 10088009
        }
      ],
      "hgvs": [
        "NC_000019.8:g.10088010A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9814,
          "referenceAllele": "A",
          "start": 9813
        }
      ],
      "hgvs": [
        "NG_047007.1:g.9814A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8591,
          "referenceAllele": "T",
          "start": 8590
        }
      ],
      "hgvs": [
        "NG_051197.1:g.8591T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616897"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 635,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 635,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "ENST00000253108.9:c.596-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253108.3:n.596-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253108.9:c.596-260T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003755.5:c.596-260T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253108.3:n.596-260T>C"
          },
          "RefSeq": {
            "hgvs": "NP_003746.2:n.596-260T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "ENST00000253108.8:c.596-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253108.3:n.596-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 517,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "ENST00000587146.5:c.491-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468159.1:n.491-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 641,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "ENST00000588709.5:c.602-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465882.1:n.602-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "T",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "ENST00000589009.5:n.1238T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "ENST00000589454.5:c.572-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466860.1:n.572-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "referenceAllele": "T",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "ENST00000590158.1:n.355T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 28,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "ENST00000593054.5:c.29-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467187.1:n.29-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 659,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 659,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "NM_003755.3:c.596-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003746.2:n.596-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "NM_003755.4:c.596-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003746.2:n.596-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 635,
          "endIntronDirection": "-",
          "endIntronOffset": 259,
          "referenceAllele": "T",
          "start": 635,
          "startIntronDirection": "-",
          "startIntronOffset": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003274",
      "geneNCBI_id": 8666,
      "geneSymbol": "EIF3G",
      "hgvs": [
        "NM_003755.5:c.596-260T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003746.2:n.596-260T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253108.9:c.596-260T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003755.5:c.596-260T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253108.3:n.596-260T>C"
          },
          "RefSeq": {
            "hgvs": "NP_003746.2:n.596-260T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}