{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255418",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.1324G>A (p.Gly442Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3558420",
        "active": true,
        "id": "COSM3558420"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25663[alleleid]",
        "alleleId": 25663,
        "preferredName": "NM_000133.4(F9):c.1324G>A (p.Gly442Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10624",
        "RCV": [
          "RCV000011370"
        ],
        "variationId": 10624
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.138644168G>A?assembly=hg19",
        "id": "chrX:g.138644168G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.139562009G>A?assembly=hg38",
        "id": "chrX:g.139562009G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852267",
        "rs": 137852267
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 139562009,
          "referenceAllele": "G",
          "start": 139562008
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139562009G>A",
        "CM000685.2:g.139562009G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 138644168,
          "referenceAllele": "G",
          "start": 138644167
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138644168G>A",
        "CM000685.1:g.138644168G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 138471834,
          "referenceAllele": "G",
          "start": 138471833
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138471834G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36274,
          "referenceAllele": "G",
          "start": 36273
        }
      ],
      "hgvs": [
        "NG_007994.1:g.36274G>A",
        "LRG_556:g.36274G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Gly442Arg",
        "hgvsWellDefined": "ENSP00000218099.2:p.Gly442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.1324G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.1324G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Gly442Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Gly442Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "endIntronDirection": "+",
          "endIntronOffset": 268,
          "referenceAllele": "G",
          "start": 1723,
          "startIntronDirection": "+",
          "startIntronOffset": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000643157.1:n.1723+268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "referenceAllele": "G",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Gly442Arg",
        "hgvsWellDefined": "ENSP00000218099.2:p.Gly442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.1210G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:p.Gly404Arg",
        "hgvsWellDefined": "ENSP00000377650.2:p.Gly404Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110058",
      "coordinates": [
        {
          "allele": "A",
          "end": 1353,
          "referenceAllele": "G",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.1324G>A",
        "LRG_556t1:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Gly442Arg",
        "hgvsWellDefined": "NP_000124.1:p.Gly442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826947139",
      "coordinates": [
        {
          "allele": "A",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.1210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Gly404Arg",
        "hgvsWellDefined": "NP_001300842.1:p.Gly404Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.1195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Gly399Arg",
        "hgvsWellDefined": "XP_005262454.1:p.Gly399Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "referenceAllele": "G",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.1195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Gly399Arg",
        "hgvsWellDefined": "XP_005262454.1:p.Gly399Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110058",
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Gly442Arg",
        "hgvsWellDefined": "NP_000124.1:p.Gly442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.1324G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.1324G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Gly442Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Gly442Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826947139",
      "coordinates": [
        {
          "allele": "A",
          "end": 1236,
          "referenceAllele": "G",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.1210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Gly404Arg",
        "hgvsWellDefined": "NP_001300842.1:p.Gly404Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}