{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1233941",
  "communityStandardTitle": [
    "NM_000130.5(F5):c.3257T>C (p.Leu1086Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1066428[alleleid]",
        "alleleId": 1066428,
        "preferredName": "NM_000130.5(F5):c.3257T>C (p.Leu1086Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1081846",
        "RCV": [
          "RCV002322385",
          "RCV003595766"
        ],
        "variationId": 1081846
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-169511071-A-G",
        "id": "1-169511071-A-G",
        "variant": "1:169511071 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169511071A>G?assembly=hg19",
        "id": "chr1:g.169511071A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169541833A>G?assembly=hg38",
        "id": "chr1:g.169541833A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116407347",
        "rs": 116407347
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169511071-A-G?dataset=gnomad_r2_1",
        "id": "1-169511071-A-G",
        "variant": "1:169511071 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169541833-A-G?dataset=gnomad_r3",
        "id": "1-169541833-A-G",
        "variant": "1:169541833 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169541833-A-G?dataset=gnomad_r4",
        "id": "1-169541833-A-G",
        "variant": "1:169541833 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169541833,
          "referenceAllele": "A",
          "start": 169541832
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169541833A>G",
        "CM000663.2:g.169541833A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169511071,
          "referenceAllele": "A",
          "start": 169511070
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169511071A>G",
        "CM000663.1:g.169511071A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 167777695,
          "referenceAllele": "A",
          "start": 167777694
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167777695A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49699,
          "referenceAllele": "T",
          "start": 49698
        }
      ],
      "hgvs": [
        "NG_011806.1:g.49699T>C",
        "LRG_553:g.49699T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001989"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3352,
          "referenceAllele": "T",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.9:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:p.Leu1086Ser",
        "hgvsWellDefined": "ENSP00000356771.3:p.Leu1086Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.3257T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.3257T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:p.Leu1086Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:p.Leu1086Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3474,
          "referenceAllele": "T",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367796.3:c.3272T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356770.3:p.Leu1091Ser",
        "hgvsWellDefined": "ENSP00000356770.3:p.Leu1091Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3459,
          "referenceAllele": "T",
          "start": 3458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.7:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:p.Leu1086Ser",
        "hgvsWellDefined": "ENSP00000356771.3:p.Leu1086Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228680",
      "coordinates": [
        {
          "allele": "C",
          "end": 3402,
          "referenceAllele": "T",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.4:c.3257T>C",
        "LRG_553t1:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:p.Leu1086Ser",
        "hgvsWellDefined": "NP_000121.2:p.Leu1086Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3409,
          "referenceAllele": "T",
          "start": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "XM_017000660.2:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856149.1:p.Leu949Ser",
        "hgvsWellDefined": "XP_016856149.1:p.Leu949Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228680",
      "coordinates": [
        {
          "allele": "C",
          "end": 3352,
          "referenceAllele": "T",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.5:c.3257T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:p.Leu1086Ser",
        "hgvsWellDefined": "NP_000121.2:p.Leu1086Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674717",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.3257T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.3257T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:p.Leu1086Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:p.Leu1086Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}