{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA336143030",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.845A>G (p.His282Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615669[alleleid]",
        "alleleId": 615669,
        "preferredName": "NM_000133.4(F9):c.845A>G (p.His282Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627146",
        "RCV": [
          "RCV000851898"
        ],
        "variationId": 627146
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.138643689A>G?assembly=hg19",
        "id": "chrX:g.138643689A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.139561530A>G?assembly=hg38",
        "id": "chrX:g.139561530A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753654616",
        "rs": 753654616
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-139561530-A-G?dataset=gnomad_r4",
        "id": "X-139561530-A-G",
        "variant": "X:139561530 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 139561530,
          "referenceAllele": "A",
          "start": 139561529
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139561530A>G",
        "CM000685.2:g.139561530A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138643689,
          "referenceAllele": "A",
          "start": 138643688
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138643689A>G",
        "CM000685.1:g.138643689A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138471355,
          "referenceAllele": "A",
          "start": 138471354
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138471355A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35795,
          "referenceAllele": "A",
          "start": 35794
        }
      ],
      "hgvs": [
        "NG_007994.1:g.35795A>G",
        "LRG_556:g.35795A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 871,
          "referenceAllele": "A",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.845A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.His282Arg",
        "hgvsWellDefined": "ENSP00000218099.2:p.His282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.845A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.845A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.His282Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.His282Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1512,
          "referenceAllele": "A",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000643157.1:n.1512A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 852,
          "referenceAllele": "A",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.845A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.His282Arg",
        "hgvsWellDefined": "ENSP00000218099.2:p.His282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.731A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:p.His244Arg",
        "hgvsWellDefined": "ENSP00000377650.2:p.His244Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958731",
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "A",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.845A>G",
        "LRG_556t1:c.845A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.His282Arg",
        "hgvsWellDefined": "NP_000124.1:p.His282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826946976",
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "referenceAllele": "A",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.731A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.His244Arg",
        "hgvsWellDefined": "NP_001300842.1:p.His244Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "referenceAllele": "A",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.716A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.His239Arg",
        "hgvsWellDefined": "XP_005262454.1:p.His239Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "A",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.716A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.His239Arg",
        "hgvsWellDefined": "XP_005262454.1:p.His239Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958731",
      "coordinates": [
        {
          "allele": "G",
          "end": 871,
          "referenceAllele": "A",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.845A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.His282Arg",
        "hgvsWellDefined": "NP_000124.1:p.His282Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.845A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.845A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.His282Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.His282Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826946976",
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "A",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.731A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.His244Arg",
        "hgvsWellDefined": "NP_001300842.1:p.His244Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}