{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7060164",
  "communityStandardTitle": [
    "NM_019616.4(F7):c.845C>T (p.Ala282Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615530[alleleid]",
        "alleleId": 615530,
        "preferredName": "NM_019616.4(F7):c.845C>T (p.Ala282Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627403",
        "RCV": [
          "RCV000852243",
          "RCV000995102",
          "RCV002245661",
          "RCV002487578"
        ],
        "variationId": 627403
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-113772832-C-T",
        "id": "13-113772832-C-T",
        "variant": "13:113772832 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113772832C>T?assembly=hg19",
        "id": "chr13:g.113772832C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113118518C>T?assembly=hg38",
        "id": "chr13:g.113118518C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964931",
        "rs": 121964931
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113772832-C-T?dataset=gnomad_r2_1",
        "id": "13-113772832-C-T",
        "variant": "13:113772832 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113118518-C-T?dataset=gnomad_r3",
        "id": "13-113118518-C-T",
        "variant": "13:113118518 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113118518-C-T?dataset=gnomad_r4",
        "id": "13-113118518-C-T",
        "variant": "13:113118518 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 113118518,
          "referenceAllele": "C",
          "start": 113118517
        }
      ],
      "hgvs": [
        "NC_000013.11:g.113118518C>T",
        "CM000675.2:g.113118518C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 113772832,
          "referenceAllele": "C",
          "start": 113772831
        }
      ],
      "hgvs": [
        "NC_000013.10:g.113772832C>T",
        "CM000675.1:g.113772832C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 112820833,
          "referenceAllele": "C",
          "start": 112820832
        }
      ],
      "hgvs": [
        "NC_000013.9:g.112820833C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "hgvs": [
        "NG_009258.1:g.720C>T",
        "LRG_548:g.720C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17728,
          "referenceAllele": "C",
          "start": 17727
        }
      ],
      "hgvs": [
        "NG_009262.1:g.17728C>T",
        "LRG_554:g.17728C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001527"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000346342.8:c.845C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329546.4:p.Ala282Val",
        "hgvsWellDefined": "ENSP00000329546.4:p.Ala282Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748316",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346342.8:c.845C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.845C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329546.4:p.Ala282Val"
          },
          "RefSeq": {
            "hgvs": "NP_062562.1:p.Ala282Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000346342.7:c.845C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329546.3:p.Ala282Val",
        "hgvsWellDefined": "ENSP00000329546.3:p.Ala282Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000375581.3:c.911C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364731.3:p.Ala304Val",
        "hgvsWellDefined": "ENSP00000364731.3:p.Ala304Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000541084.5:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442051.2:p.Ala220Val",
        "hgvsWellDefined": "ENSP00000442051.2:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103443",
      "coordinates": [
        {
          "allele": "T",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_000131.4:c.911C>T",
        "LRG_554t1:c.911C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000122.1:p.Ala304Val",
        "hgvsWellDefined": "NP_000122.1:p.Ala304Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826500740",
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.1:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254483.1:p.Ala220Val",
        "hgvsWellDefined": "NP_001254483.1:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829904376",
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "C",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_019616.3:c.845C>T",
        "LRG_554t2:c.845C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_062562.1:p.Ala282Val",
        "hgvsWellDefined": "NP_062562.1:p.Ala282Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NR_051961.1:n.932C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_006719963.2:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720026.1:p.Ala235Val",
        "hgvsWellDefined": "XP_006720026.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.1:c.953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535776.1:p.Ala318Val",
        "hgvsWellDefined": "XP_011535776.1:p.Ala318Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537475.1:c.767C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535777.1:p.Ala256Val",
        "hgvsWellDefined": "XP_011535777.1:p.Ala256Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537476.1:c.605C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535778.1:p.Ala202Val",
        "hgvsWellDefined": "XP_011535778.1:p.Ala202Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537477.1:c.914C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535779.1:p.Ala305Val",
        "hgvsWellDefined": "XP_011535779.1:p.Ala305Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_006719963.3:c.749C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720026.2:p.Ala250Val",
        "hgvsWellDefined": "XP_006720026.2:p.Ala250Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "referenceAllele": "C",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.2:c.998C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535776.2:p.Ala333Val",
        "hgvsWellDefined": "XP_011535776.2:p.Ala333Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537475.2:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535777.2:p.Ala271Val",
        "hgvsWellDefined": "XP_011535777.2:p.Ala271Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1380,
          "referenceAllele": "C",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537476.2:c.605C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535778.1:p.Ala202Val",
        "hgvsWellDefined": "XP_011535778.1:p.Ala202Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829904376",
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_019616.4:c.845C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_062562.1:p.Ala282Val",
        "hgvsWellDefined": "NP_062562.1:p.Ala282Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346342.8:c.845C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.845C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329546.4:p.Ala282Val"
          },
          "RefSeq": {
            "hgvs": "NP_062562.1:p.Ala282Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NR_051961.2:n.929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826500740",
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.2:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254483.1:p.Ala220Val",
        "hgvsWellDefined": "NP_001254483.1:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715076"
    }
  ],
  "type": "nucleotide"
}