{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358959225",
  "communityStandardTitle": [
    "NM_000128.4(F11):c.688T>A (p.Cys230Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2805306[alleleid]",
        "alleleId": 2805306,
        "preferredName": "NM_000128.4(F11):c.688T>A (p.Cys230Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2637829",
        "RCV": [
          "RCV003405127",
          "RCV003553935"
        ],
        "variationId": 2637829
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187197477T>A?assembly=hg19",
        "id": "chr4:g.187197477T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186276323T>A?assembly=hg38",
        "id": "chr4:g.186276323T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1004775935",
        "rs": 1004775935
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186276323,
          "referenceAllele": "T",
          "start": 186276322
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186276323T>A",
        "CM000666.2:g.186276323T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187197477,
          "referenceAllele": "T",
          "start": 187197476
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187197477T>A",
        "CM000666.1:g.187197477T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187434471,
          "referenceAllele": "T",
          "start": 187434470
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187434471T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15360,
          "referenceAllele": "T",
          "start": 15359
        }
      ],
      "hgvs": [
        "NG_008051.1:g.15360T>A",
        "LRG_583:g.15360T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "T",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.7:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Cys230Ser",
        "hgvsWellDefined": "ENSP00000384957.2:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754055",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.688T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.688T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Cys230Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Cys230Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "T",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264692.8:c.526T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264692.5:p.Cys176Ser",
        "hgvsWellDefined": "ENSP00000264692.5:p.Cys176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.6:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Cys230Ser",
        "hgvsWellDefined": "ENSP00000384957.2:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000452239.1:c.135T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741810044",
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.3:c.688T>A",
        "LRG_583t1:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Cys230Ser",
        "hgvsWellDefined": "NP_000119.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.2:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_005262878.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.2:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_005262879.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 2048,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.2:c.485+2048T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:n.485+2048T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262824.1:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262881.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_005262881.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.1:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_006714200.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938706.1:n.1040T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938707.1:n.1040T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.4:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_005262878.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.4:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_005262879.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 2048,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.4:c.485+2048T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:n.485+2048T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.3:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_006714200.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007884.2:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863373.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_016863373.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007885.2:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863374.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_016863374.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007886.2:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863375.1:p.Cys230Ser",
        "hgvsWellDefined": "XP_016863375.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_001741172.2:n.1021T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741810044",
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "T",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.4:c.688T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Cys230Ser",
        "hgvsWellDefined": "NP_000119.1:p.Cys230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.688T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.688T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Cys230Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Cys230Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}