{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8587698",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.1012G>A (p.Val338Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3387914",
        "active": true,
        "id": "COSM3387914"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1674436[alleleid]",
        "alleleId": 1674436,
        "preferredName": "NM_000151.4(G6PC1):c.1012G>A (p.Val338Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1682536",
        "RCV": [
          "RCV002237517"
        ],
        "variationId": 1682536
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-41063381-G-A",
        "id": "17-41063381-G-A",
        "variant": "17:41063381 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41063381G>A?assembly=hg19",
        "id": "chr17:g.41063381G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42911364G>A?assembly=hg38",
        "id": "chr17:g.42911364G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367727229",
        "rs": 367727229
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41063381-G-A?dataset=gnomad_r2_1",
        "id": "17-41063381-G-A",
        "variant": "17:41063381 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42911364-G-A?dataset=gnomad_r3",
        "id": "17-42911364-G-A",
        "variant": "17:42911364 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42911364-G-A?dataset=gnomad_r4",
        "id": "17-42911364-G-A",
        "variant": "17:42911364 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42911364,
          "referenceAllele": "G",
          "start": 42911363
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42911364G>A",
        "CM000679.2:g.42911364G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41063381,
          "referenceAllele": "G",
          "start": 41063380
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41063381G>A",
        "CM000679.1:g.41063381G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38316907,
          "referenceAllele": "G",
          "start": 38316906
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38316907G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15567,
          "referenceAllele": "G",
          "start": 15566
        }
      ],
      "hgvs": [
        "NG_011808.1:g.15567G>A",
        "LRG_147:g.15567G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.1012G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Val338Ile",
        "hgvsWellDefined": "ENSP00000253801.1:p.Val338Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.1012G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.1012G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Val338Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Val338Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.1012G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Val338Ile",
        "hgvsWellDefined": "ENSP00000253801.1:p.Val338Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.*404G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:n.*404G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163006",
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.1012G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Val338Ile",
        "hgvsWellDefined": "NP_000142.2:p.Val338Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.*404G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.*404G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163006",
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.1012G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Val338Ile",
        "hgvsWellDefined": "NP_000142.2:p.Val338Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.1012G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.1012G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Val338Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Val338Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.*404G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.*404G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}