{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA246910",
  "communityStandardTitle": [
    "NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4685555",
        "active": true,
        "id": "COSM4685555"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4685556",
        "active": true,
        "id": "COSM4685556"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195485[alleleid]",
        "alleleId": 195485,
        "preferredName": "NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198324",
        "RCV": [
          "RCV000179606",
          "RCV000207380",
          "RCV001151994",
          "RCV003488431"
        ],
        "variationId": 198324
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-79428622-C-T",
        "id": "4-79428622-C-T",
        "variant": "4:79428622 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.79428622C>T?assembly=hg19",
        "id": "chr4:g.79428622C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.78507468C>T?assembly=hg38",
        "id": "chr4:g.78507468C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200346497",
        "rs": 200346497
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-79428622-C-T?dataset=gnomad_r2_1",
        "id": "4-79428622-C-T",
        "variant": "4:79428622 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78507468-C-T?dataset=gnomad_r3",
        "id": "4-78507468-C-T",
        "variant": "4:78507468 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78507468-C-T?dataset=gnomad_r4",
        "id": "4-78507468-C-T",
        "variant": "4:78507468 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 78507468,
          "referenceAllele": "C",
          "start": 78507467
        }
      ],
      "hgvs": [
        "NC_000004.12:g.78507468C>T",
        "CM000666.2:g.78507468C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 79428622,
          "referenceAllele": "C",
          "start": 79428621
        }
      ],
      "hgvs": [
        "NC_000004.11:g.79428622C>T",
        "CM000666.1:g.79428622C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 79647646,
          "referenceAllele": "C",
          "start": 79647645
        }
      ],
      "hgvs": [
        "NC_000004.10:g.79647646C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454899,
          "referenceAllele": "C",
          "start": 454898
        }
      ],
      "hgvs": [
        "NG_015812.1:g.454899C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454899,
          "referenceAllele": "C",
          "start": 454898
        }
      ],
      "hgvs": [
        "NG_015812.2:g.454899C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673642"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10051,
          "referenceAllele": "C",
          "start": 10050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000682513.1:c.9364C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508201.1:p.Arg3122Trp",
        "hgvsWellDefined": "ENSP00000508201.1:p.Arg3122Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10051,
          "referenceAllele": "C",
          "start": 10050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.4:c.9364C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Arg3122Trp",
        "hgvsWellDefined": "ENSP00000422834.2:p.Arg3122Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758265",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.9364C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.9364C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Arg3122Trp"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Arg3122Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9804,
          "referenceAllele": "C",
          "start": 9803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.3:c.9364C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Arg3122Trp",
        "hgvsWellDefined": "ENSP00000422834.2:p.Arg3122Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA246911",
      "coordinates": [
        {
          "allele": "T",
          "end": 9804,
          "referenceAllele": "C",
          "start": 9803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.6:c.9364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Arg3122Trp",
        "hgvsWellDefined": "NP_079350.5:p.Arg3122Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10400,
          "referenceAllele": "C",
          "start": 10399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714314.1:c.9358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714377.1:p.Arg3120Trp",
        "hgvsWellDefined": "XP_006714377.1:p.Arg3120Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10178,
          "referenceAllele": "C",
          "start": 10177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.1:c.9136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Arg3046Trp",
        "hgvsWellDefined": "XP_006714379.1:p.Arg3046Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7090,
          "referenceAllele": "C",
          "start": 7089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532270.1:c.7063C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530572.1:p.Arg2355Trp",
        "hgvsWellDefined": "XP_011530572.1:p.Arg2355Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4371,
          "referenceAllele": "C",
          "start": 4370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532271.1:c.4252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530573.1:p.Arg1418Trp",
        "hgvsWellDefined": "XP_011530573.1:p.Arg1418Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10178,
          "referenceAllele": "C",
          "start": 10177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.3:c.9136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Arg3046Trp",
        "hgvsWellDefined": "XP_006714379.1:p.Arg3046Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA246911",
      "coordinates": [
        {
          "allele": "T",
          "end": 10051,
          "referenceAllele": "C",
          "start": 10050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.7:c.9364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Arg3122Trp",
        "hgvsWellDefined": "NP_079350.5:p.Arg3122Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.9364C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.9364C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Arg3122Trp"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Arg3122Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}