{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3933339",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3179276",
        "active": true,
        "id": "COSM3179276"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431038[alleleid]",
        "alleleId": 431038,
        "preferredName": "NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437818",
        "RCV": [
          "RCV000503469",
          "RCV002524395"
        ],
        "variationId": 437818
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-99322232-C-T",
        "id": "6-99322232-C-T",
        "variant": "6:99322232 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99322232C>T?assembly=hg19",
        "id": "chr6:g.99322232C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98874356C>T?assembly=hg38",
        "id": "chr6:g.98874356C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745713189",
        "rs": 745713189
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-99322232-C-T?dataset=gnomad_r2_1",
        "id": "6-99322232-C-T",
        "variant": "6:99322232 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98874356-C-T?dataset=gnomad_r4",
        "id": "6-98874356-C-T",
        "variant": "6:98874356 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 98874356,
          "referenceAllele": "C",
          "start": 98874355
        }
      ],
      "hgvs": [
        "NC_000006.12:g.98874356C>T",
        "CM000668.2:g.98874356C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 99322232,
          "referenceAllele": "C",
          "start": 99322231
        }
      ],
      "hgvs": [
        "NC_000006.11:g.99322232C>T",
        "CM000668.1:g.99322232C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 99428953,
          "referenceAllele": "C",
          "start": 99428952
        }
      ],
      "hgvs": [
        "NC_000006.10:g.99428953C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78651,
          "referenceAllele": "G",
          "start": 78650
        }
      ],
      "hgvs": [
        "NG_033903.1:g.78651G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.7:c.1788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Ser596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1788G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1788G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Ser596="
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Ser596="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2179,
          "referenceAllele": "G",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000229971.2:c.1788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229971.1:p.Ser596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2217,
          "referenceAllele": "G",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.6:c.1788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Ser596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826614054",
      "coordinates": [
        {
          "allele": "A",
          "end": 2297,
          "referenceAllele": "G",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.1:c.1788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Ser596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723695",
      "coordinates": [
        {
          "allele": "A",
          "end": 2179,
          "referenceAllele": "G",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.4:c.1788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Ser596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "referenceAllele": "G",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.1:n.1833G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.1:c.1716G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Ser572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2186,
          "referenceAllele": "G",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.3:c.1716G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Ser572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "referenceAllele": "G",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010726.1:c.1788G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866215.1:p.Ser596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010727.2:c.1716G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866216.1:p.Ser572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2373,
          "referenceAllele": "G",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010728.1:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866217.1:p.Ser354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826614054",
      "coordinates": [
        {
          "allele": "A",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.2:c.1788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Ser596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1788G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1788G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Ser596="
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Ser596="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1773,
          "referenceAllele": "G",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.1773G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723695",
      "coordinates": [
        {
          "allele": "A",
          "end": 2119,
          "referenceAllele": "G",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.1788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Ser596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}