{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2979286",
  "communityStandardTitle": [
    "NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=538370[alleleid]",
        "alleleId": 538370,
        "preferredName": "NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547870",
        "RCV": [
          "RCV000660411",
          "RCV001572828"
        ],
        "variationId": 547870
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-79461956-T-C",
        "id": "4-79461956-T-C",
        "variant": "4:79461956 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.79461956T>C?assembly=hg19",
        "id": "chr4:g.79461956T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.78540802T>C?assembly=hg38",
        "id": "chr4:g.78540802T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61748814",
        "rs": 61748814
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-79461956-T-C?dataset=gnomad_r2_1",
        "id": "4-79461956-T-C",
        "variant": "4:79461956 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78540802-T-C?dataset=gnomad_r3",
        "id": "4-78540802-T-C",
        "variant": "4:78540802 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78540802-T-C?dataset=gnomad_r4",
        "id": "4-78540802-T-C",
        "variant": "4:78540802 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 78540802,
          "referenceAllele": "T",
          "start": 78540801
        }
      ],
      "hgvs": [
        "NC_000004.12:g.78540802T>C",
        "CM000666.2:g.78540802T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 79461956,
          "referenceAllele": "T",
          "start": 79461955
        }
      ],
      "hgvs": [
        "NC_000004.11:g.79461956T>C",
        "CM000666.1:g.79461956T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 79680980,
          "referenceAllele": "T",
          "start": 79680979
        }
      ],
      "hgvs": [
        "NC_000004.10:g.79680980T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488233,
          "referenceAllele": "T",
          "start": 488232
        }
      ],
      "hgvs": [
        "NG_015812.1:g.488233T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488233,
          "referenceAllele": "T",
          "start": 488232
        }
      ],
      "hgvs": [
        "NG_015812.2:g.488233T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673642"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12404,
          "referenceAllele": "T",
          "start": 12403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.4:c.11717T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Ile3906Thr",
        "hgvsWellDefined": "ENSP00000422834.2:p.Ile3906Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758265",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.11717T>C"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.11717T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Ile3906Thr"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Ile3906Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12157,
          "referenceAllele": "T",
          "start": 12156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.3:c.11717T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Ile3906Thr",
        "hgvsWellDefined": "ENSP00000422834.2:p.Ile3906Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830631",
      "coordinates": [
        {
          "allele": "C",
          "end": 12157,
          "referenceAllele": "T",
          "start": 12156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.6:c.11717T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Ile3906Thr",
        "hgvsWellDefined": "NP_079350.5:p.Ile3906Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12753,
          "referenceAllele": "T",
          "start": 12752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714314.1:c.11711T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714377.1:p.Ile3904Thr",
        "hgvsWellDefined": "XP_006714377.1:p.Ile3904Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12531,
          "referenceAllele": "T",
          "start": 12530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.1:c.11489T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Ile3830Thr",
        "hgvsWellDefined": "XP_006714379.1:p.Ile3830Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9443,
          "referenceAllele": "T",
          "start": 9442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532270.1:c.9416T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530572.1:p.Ile3139Thr",
        "hgvsWellDefined": "XP_011530572.1:p.Ile3139Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6724,
          "referenceAllele": "T",
          "start": 6723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532271.1:c.6605T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530573.1:p.Ile2202Thr",
        "hgvsWellDefined": "XP_011530573.1:p.Ile2202Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12531,
          "referenceAllele": "T",
          "start": 12530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.3:c.11489T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Ile3830Thr",
        "hgvsWellDefined": "XP_006714379.1:p.Ile3830Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830631",
      "coordinates": [
        {
          "allele": "C",
          "end": 12404,
          "referenceAllele": "T",
          "start": 12403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.7:c.11717T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Ile3906Thr",
        "hgvsWellDefined": "NP_079350.5:p.Ile3906Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.11717T>C"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.11717T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Ile3906Thr"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Ile3906Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}