{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA803398",
  "communityStandardTitle": [
    "NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3419240",
        "active": true,
        "id": "COSM3419240"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3419241",
        "active": true,
        "id": "COSM3419241"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=365281[alleleid]",
        "alleleId": 365281,
        "preferredName": "NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379117",
        "RCV": [
          "RCV000439467",
          "RCV002379309",
          "RCV003445975",
          "RCV003445977",
          "RCV000791499",
          "RCV003445976",
          "RCV003445978",
          "RCV003445979"
        ],
        "variationId": 379117
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-43394886-C-T",
        "id": "1-43394886-C-T",
        "variant": "1:43394886 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43394886C>T?assembly=hg19",
        "id": "chr1:g.43394886C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42929215C>T?assembly=hg38",
        "id": "chr1:g.42929215C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749426767",
        "rs": 749426767
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43394886-C-T?dataset=gnomad_r2_1",
        "id": "1-43394886-C-T",
        "variant": "1:43394886 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42929215-C-T?dataset=gnomad_r3",
        "id": "1-42929215-C-T",
        "variant": "1:42929215 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42929215-C-T?dataset=gnomad_r4",
        "id": "1-42929215-C-T",
        "variant": "1:42929215 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 42929215,
          "referenceAllele": "C",
          "start": 42929214
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42929215C>T",
        "CM000663.2:g.42929215C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43394886,
          "referenceAllele": "C",
          "start": 43394885
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43394886C>T",
        "CM000663.1:g.43394886C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43167473,
          "referenceAllele": "C",
          "start": 43167472
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43167473C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34962,
          "referenceAllele": "G",
          "start": 34961
        }
      ],
      "hgvs": [
        "NG_008232.1:g.34962G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.10:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Val323Met",
        "hgvsWellDefined": "ENSP00000416293.2:p.Val323Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.967G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.967G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Val323Met"
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Val323Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000674545.1:n.285G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000674765.1:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501811.1:p.Val323Met",
        "hgvsWellDefined": "ENSP00000501811.1:p.Val323Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000675112.1:n.1268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000676254.1:n.1416G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1489,
          "referenceAllele": "G",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.7:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Val323Met",
        "hgvsWellDefined": "ENSP00000416293.2:p.Val323Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000439722.2:c.846G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395521.2:n.846G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 1411,
          "referenceAllele": "G",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000475162.3:c.415+1411G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000630287.2:c.*282G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486694.1:n.*282G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374034",
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.2:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Val323Met",
        "hgvsWellDefined": "NP_006507.2:p.Val323Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374034",
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.3:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Val323Met",
        "hgvsWellDefined": "NP_006507.2:p.Val323Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374034",
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.4:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Val323Met",
        "hgvsWellDefined": "NP_006507.2:p.Val323Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.967G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.967G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Val323Met"
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Val323Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}