{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1519939837",
  "communityStandardTitle": [
    "NM_000128.4(F11):c.1789G= (p.Glu597=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281875251",
        "rs": 281875251
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 186288525,
          "referenceAllele": "G",
          "start": 186288524
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186288525G=",
        "CM000666.2:g.186288525G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 187209679,
          "referenceAllele": "G",
          "start": 187209678
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187209679G=",
        "CM000666.1:g.187209679G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 187446673,
          "referenceAllele": "G",
          "start": 187446672
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187446673G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27562,
          "referenceAllele": "G",
          "start": 27561
        }
      ],
      "hgvs": [
        "NG_008051.1:g.27562G=",
        "LRG_583:g.27562G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1897,
          "referenceAllele": "G",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.7:c.1789G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Glu597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754055",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.1789G="
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.1789G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Glu597="
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Glu597="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264691.4:c.389G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264692.8:c.1627G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264692.5:p.Glu543="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2141,
          "referenceAllele": "G",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.6:c.1789G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Glu597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000503841.1:n.308G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069937519",
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "G",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.3:c.1789G=",
        "LRG_583t1:c.1789G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Glu597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027725",
      "geneNCBI_id": 285441,
      "geneSymbol": "F11-AS1",
      "hgvs": [
        "NR_033900.1:n.969C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "G",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.2:c.1792G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Glu598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063580"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2048,
          "referenceAllele": "G",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.2:c.1696G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:p.Glu566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1874,
          "referenceAllele": "G",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.2:c.1522G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:p.Glu508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "referenceAllele": "G",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.1:c.1744G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Glu582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.4:c.1792G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Glu598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "G",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.4:c.1696G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:p.Glu566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1855,
          "referenceAllele": "G",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.4:c.1522G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:p.Glu508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2077,
          "referenceAllele": "G",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.3:c.1744G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Glu582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538666"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069937519",
      "coordinates": [
        {
          "allele": "G",
          "end": 1897,
          "referenceAllele": "G",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.4:c.1789G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Glu597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.1789G="
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.1789G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Glu597="
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Glu597="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}