{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7060229",
  "communityStandardTitle": [
    "NM_019616.4(F7):c.1085C>T (p.Thr362Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408804[alleleid]",
        "alleleId": 408804,
        "preferredName": "NM_019616.4(F7):c.1085C>T (p.Thr362Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420160",
        "RCV": [
          "RCV000482463",
          "RCV001095705",
          "RCV003313784"
        ],
        "variationId": 420160
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-113773072-C-T",
        "id": "13-113773072-C-T",
        "variant": "13:113773072 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113773072C>T?assembly=hg19",
        "id": "chr13:g.113773072C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113118758C>T?assembly=hg38",
        "id": "chr13:g.113118758C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/531225271",
        "rs": 531225271
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113773072-C-T?dataset=gnomad_r2_1",
        "id": "13-113773072-C-T",
        "variant": "13:113773072 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113118758-C-T?dataset=gnomad_r3",
        "id": "13-113118758-C-T",
        "variant": "13:113118758 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113118758-C-T?dataset=gnomad_r4",
        "id": "13-113118758-C-T",
        "variant": "13:113118758 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 113118758,
          "referenceAllele": "C",
          "start": 113118757
        }
      ],
      "hgvs": [
        "NC_000013.11:g.113118758C>T",
        "CM000675.2:g.113118758C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 113773072,
          "referenceAllele": "C",
          "start": 113773071
        }
      ],
      "hgvs": [
        "NC_000013.10:g.113773072C>T",
        "CM000675.1:g.113773072C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 112821073,
          "referenceAllele": "C",
          "start": 112821072
        }
      ],
      "hgvs": [
        "NC_000013.9:g.112821073C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "hgvs": [
        "NG_009258.1:g.960C>T",
        "LRG_548:g.960C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17968,
          "referenceAllele": "C",
          "start": 17967
        }
      ],
      "hgvs": [
        "NG_009262.1:g.17968C>T",
        "LRG_554:g.17968C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001527"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000346342.8:c.1085C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329546.4:p.Thr362Met",
        "hgvsWellDefined": "ENSP00000329546.4:p.Thr362Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748316",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346342.8:c.1085C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.1085C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329546.4:p.Thr362Met"
          },
          "RefSeq": {
            "hgvs": "NP_062562.1:p.Thr362Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000346342.7:c.1085C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329546.3:p.Thr362Met",
        "hgvsWellDefined": "ENSP00000329546.3:p.Thr362Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000375581.3:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364731.3:p.Thr384Met",
        "hgvsWellDefined": "ENSP00000364731.3:p.Thr384Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "ENST00000541084.5:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442051.2:p.Thr300Met",
        "hgvsWellDefined": "ENSP00000442051.2:p.Thr300Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104412",
      "coordinates": [
        {
          "allele": "T",
          "end": 1205,
          "referenceAllele": "C",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_000131.4:c.1151C>T",
        "LRG_554t1:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000122.1:p.Thr384Met",
        "hgvsWellDefined": "NP_000122.1:p.Thr384Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826500814",
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254483.1:p.Thr300Met",
        "hgvsWellDefined": "NP_001254483.1:p.Thr300Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645294387",
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "C",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_019616.3:c.1085C>T",
        "LRG_554t2:c.1085C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_062562.1:p.Thr362Met",
        "hgvsWellDefined": "NP_062562.1:p.Thr362Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NR_051961.1:n.1172C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "C",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_006719963.2:c.944C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720026.1:p.Thr315Met",
        "hgvsWellDefined": "XP_006720026.1:p.Thr315Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.1:c.1193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535776.1:p.Thr398Met",
        "hgvsWellDefined": "XP_011535776.1:p.Thr398Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537475.1:c.1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535777.1:p.Thr336Met",
        "hgvsWellDefined": "XP_011535777.1:p.Thr336Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537476.1:c.845C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535778.1:p.Thr282Met",
        "hgvsWellDefined": "XP_011535778.1:p.Thr282Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537477.1:c.1154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535779.1:p.Thr385Met",
        "hgvsWellDefined": "XP_011535779.1:p.Thr385Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_006719963.3:c.989C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720026.2:p.Thr330Met",
        "hgvsWellDefined": "XP_006720026.2:p.Thr330Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.2:c.1238C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535776.2:p.Thr413Met",
        "hgvsWellDefined": "XP_011535776.2:p.Thr413Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537475.2:c.1052C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535777.2:p.Thr351Met",
        "hgvsWellDefined": "XP_011535777.2:p.Thr351Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537476.2:c.845C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535778.1:p.Thr282Met",
        "hgvsWellDefined": "XP_011535778.1:p.Thr282Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645294387",
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_019616.4:c.1085C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_062562.1:p.Thr362Met",
        "hgvsWellDefined": "NP_062562.1:p.Thr362Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346342.8:c.1085C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.1085C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329546.4:p.Thr362Met"
          },
          "RefSeq": {
            "hgvs": "NP_062562.1:p.Thr362Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NR_051961.2:n.1169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826500814",
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.2:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254483.1:p.Thr300Met",
        "hgvsWellDefined": "NP_001254483.1:p.Thr300Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715076"
    }
  ],
  "type": "nucleotide"
}