{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121837",
  "communityStandardTitle": [
    "NM_000504.4(F10):c.1096C>T (p.Arg366Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27092[alleleid]",
        "alleleId": 27092,
        "preferredName": "NM_000504.4(F10):c.1096C>T (p.Arg366Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12053",
        "RCV": [
          "RCV000012833"
        ],
        "variationId": 12053
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-113803460-C-T",
        "id": "13-113803460-C-T",
        "variant": "13:113803460 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113803460C>T?assembly=hg19",
        "id": "chr13:g.113803460C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.113149146C>T?assembly=hg38",
        "id": "chr13:g.113149146C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894392",
        "rs": 104894392
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113803460-C-T?dataset=gnomad_r2_1",
        "id": "13-113803460-C-T",
        "variant": "13:113803460 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-113149146-C-T?dataset=gnomad_r4",
        "id": "13-113149146-C-T",
        "variant": "13:113149146 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 113149146,
          "referenceAllele": "C",
          "start": 113149145
        }
      ],
      "hgvs": [
        "NC_000013.11:g.113149146C>T",
        "CM000675.2:g.113149146C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 113803460,
          "referenceAllele": "C",
          "start": 113803459
        }
      ],
      "hgvs": [
        "NC_000013.10:g.113803460C>T",
        "CM000675.1:g.113803460C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 112851461,
          "referenceAllele": "C",
          "start": 112851460
        }
      ],
      "hgvs": [
        "NC_000013.9:g.112851461C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31348,
          "referenceAllele": "C",
          "start": 31347
        }
      ],
      "hgvs": [
        "NG_009258.1:g.31348C>T",
        "LRG_548:g.31348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001524"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "ENST00000375559.8:c.1096C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364709.3:p.Arg366Cys",
        "hgvsWellDefined": "ENSP00000364709.3:p.Arg366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751635",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375559.8:c.1096C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000504.4:c.1096C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364709.3:p.Arg366Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000495.1:p.Arg366Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "ENST00000375551.7:c.*87C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364701.3:n.*87C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "ENST00000375559.7:c.1096C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364709.3:p.Arg366Cys",
        "hgvsWellDefined": "ENSP00000364709.3:p.Arg366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "ENST00000409306.5:c.*87C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387092.1:n.*87C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096971",
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "NM_000504.3:c.1096C>T",
        "LRG_548t1:c.1096C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000495.1:p.Arg366Cys",
        "hgvsWellDefined": "NP_000495.1:p.Arg366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826943681",
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "NM_001312674.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299603.1:p.Arg322Cys",
        "hgvsWellDefined": "NP_001299603.1:p.Arg322Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "NM_001312675.1:c.*87C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299604.1:n.*87C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096971",
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "NM_000504.4:c.1096C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000495.1:p.Arg366Cys",
        "hgvsWellDefined": "NP_000495.1:p.Arg366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375559.8:c.1096C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000504.4:c.1096C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364709.3:p.Arg366Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000495.1:p.Arg366Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826943681",
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "NM_001312674.2:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299603.1:p.Arg322Cys",
        "hgvsWellDefined": "NP_001299603.1:p.Arg322Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003528",
      "geneNCBI_id": 2159,
      "geneSymbol": "F10",
      "hgvs": [
        "NM_001312675.2:c.*87C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299604.1:n.*87C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684091"
    }
  ],
  "type": "nucleotide"
}