{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2979180",
  "communityStandardTitle": [
    "NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272090[alleleid]",
        "alleleId": 272090,
        "preferredName": "NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287853",
        "RCV": [
          "RCV000334766",
          "RCV000388584"
        ],
        "variationId": 287853
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-79458320-C-T",
        "id": "4-79458320-C-T",
        "variant": "4:79458320 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.79458320C>T?assembly=hg19",
        "id": "chr4:g.79458320C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.78537166C>T?assembly=hg38",
        "id": "chr4:g.78537166C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199510509",
        "rs": 199510509
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-79458320-C-T?dataset=gnomad_r2_1",
        "id": "4-79458320-C-T",
        "variant": "4:79458320 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78537166-C-T?dataset=gnomad_r3",
        "id": "4-78537166-C-T",
        "variant": "4:78537166 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78537166-C-T?dataset=gnomad_r4",
        "id": "4-78537166-C-T",
        "variant": "4:78537166 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 78537166,
          "referenceAllele": "C",
          "start": 78537165
        }
      ],
      "hgvs": [
        "NC_000004.12:g.78537166C>T",
        "CM000666.2:g.78537166C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 79458320,
          "referenceAllele": "C",
          "start": 79458319
        }
      ],
      "hgvs": [
        "NC_000004.11:g.79458320C>T",
        "CM000666.1:g.79458320C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 79677344,
          "referenceAllele": "C",
          "start": 79677343
        }
      ],
      "hgvs": [
        "NC_000004.10:g.79677344C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484597,
          "referenceAllele": "C",
          "start": 484596
        }
      ],
      "hgvs": [
        "NG_015812.1:g.484597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484597,
          "referenceAllele": "C",
          "start": 484596
        }
      ],
      "hgvs": [
        "NG_015812.2:g.484597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673642"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11951,
          "referenceAllele": "C",
          "start": 11950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.4:c.11264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Pro3755Leu",
        "hgvsWellDefined": "ENSP00000422834.2:p.Pro3755Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758265",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.11264C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.11264C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Pro3755Leu"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Pro3755Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11704,
          "referenceAllele": "C",
          "start": 11703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.3:c.11264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Pro3755Leu",
        "hgvsWellDefined": "ENSP00000422834.2:p.Pro3755Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443965",
      "coordinates": [
        {
          "allele": "T",
          "end": 11704,
          "referenceAllele": "C",
          "start": 11703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.6:c.11264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Pro3755Leu",
        "hgvsWellDefined": "NP_079350.5:p.Pro3755Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12300,
          "referenceAllele": "C",
          "start": 12299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714314.1:c.11258C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714377.1:p.Pro3753Leu",
        "hgvsWellDefined": "XP_006714377.1:p.Pro3753Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12078,
          "referenceAllele": "C",
          "start": 12077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.1:c.11036C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Pro3679Leu",
        "hgvsWellDefined": "XP_006714379.1:p.Pro3679Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8990,
          "referenceAllele": "C",
          "start": 8989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532270.1:c.8963C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530572.1:p.Pro2988Leu",
        "hgvsWellDefined": "XP_011530572.1:p.Pro2988Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6271,
          "referenceAllele": "C",
          "start": 6270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532271.1:c.6152C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530573.1:p.Pro2051Leu",
        "hgvsWellDefined": "XP_011530573.1:p.Pro2051Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12078,
          "referenceAllele": "C",
          "start": 12077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.3:c.11036C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Pro3679Leu",
        "hgvsWellDefined": "XP_006714379.1:p.Pro3679Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443965",
      "coordinates": [
        {
          "allele": "T",
          "end": 11951,
          "referenceAllele": "C",
          "start": 11950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.7:c.11264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Pro3755Leu",
        "hgvsWellDefined": "NP_079350.5:p.Pro3755Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.11264C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.11264C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Pro3755Leu"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Pro3755Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}