{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA439973841",
  "communityStandardTitle": [
    "NM_025074.7(FRAS1):c.1371T>C (p.Gly457=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=892236[alleleid]",
        "alleleId": 892236,
        "preferredName": "NM_025074.7(FRAS1):c.1371T>C (p.Gly457=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/906173",
        "RCV": [
          "RCV001155162",
          "RCV003708579"
        ],
        "variationId": 906173
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.79205674T>C?assembly=hg19",
        "id": "chr4:g.79205674T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746772122",
        "rs": 746772122
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78284520-T-C?dataset=gnomad_r4",
        "id": "4-78284520-T-C",
        "variant": "4:78284520 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 78284520,
          "referenceAllele": "T",
          "start": 78284519
        }
      ],
      "hgvs": [
        "NC_000004.12:g.78284520T>C",
        "CM000666.2:g.78284520T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 79205674,
          "referenceAllele": "T",
          "start": 79205673
        }
      ],
      "hgvs": [
        "NC_000004.11:g.79205674T>C",
        "CM000666.1:g.79205674T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 79424698,
          "referenceAllele": "T",
          "start": 79424697
        }
      ],
      "hgvs": [
        "NC_000004.10:g.79424698T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231951,
          "referenceAllele": "T",
          "start": 231950
        }
      ],
      "hgvs": [
        "NG_015812.1:g.231951T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231951,
          "referenceAllele": "T",
          "start": 231950
        }
      ],
      "hgvs": [
        "NG_015812.2:g.231951T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673642"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "T",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000325942.11:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326330.6:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "T",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000502446.6:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423645.2:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825495"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "T",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000508900.2:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423809.2:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "T",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000682513.1:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508201.1:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "T",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000682583.1:n.584T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "T",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000684159.1:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506875.1:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "T",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.4:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758265",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.1371T>C"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.1371T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Gly457="
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Gly457="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 17225,
          "referenceAllele": "T",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 17224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000264899.10:c.844+17225T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264899.7:n.844+17225T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "T",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000325942.10:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326330.6:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000502446.5:c.1157T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000508900.1:c.898T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "T",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.3:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826024282",
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "T",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_001166133.1:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159605.1:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830051272",
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "T",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.6:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2413,
          "referenceAllele": "T",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714314.1:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714377.1:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2413,
          "referenceAllele": "T",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.1:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2413,
          "referenceAllele": "T",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.3:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830051272",
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "T",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.7:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.1371T>C"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.1371T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Gly457="
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Gly457="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826024282",
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "T",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_001166133.2:c.1371T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159605.1:p.Gly457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713171"
    }
  ],
  "type": "nucleotide"
}