{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255329",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.316G>A (p.Gly106Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3764964",
        "active": true,
        "id": "COSM3764964"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25618[alleleid]",
        "alleleId": 25618,
        "preferredName": "NM_000133.4(F9):c.316G>A (p.Gly106Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10579",
        "RCV": [
          "RCV000011325",
          "RCV000795416",
          "RCV001810846",
          "RCV002247325",
          "RCV002496325",
          "RCV003430636"
        ],
        "variationId": 10579
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.138623273G>A?assembly=hg19",
        "id": "chrX:g.138623273G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.139541114G>A?assembly=hg38",
        "id": "chrX:g.139541114G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852233",
        "rs": 137852233
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-138623273-G-A?dataset=gnomad_r2_1",
        "id": "X-138623273-G-A",
        "variant": "X:138623273 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-139541114-G-A?dataset=gnomad_r3",
        "id": "X-139541114-G-A",
        "variant": "X:139541114 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-139541114-G-A?dataset=gnomad_r4",
        "id": "X-139541114-G-A",
        "variant": "X:139541114 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 139541114,
          "referenceAllele": "G",
          "start": 139541113
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139541114G>A",
        "CM000685.2:g.139541114G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 138623273,
          "referenceAllele": "G",
          "start": 138623272
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138623273G>A",
        "CM000685.1:g.138623273G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 138450939,
          "referenceAllele": "G",
          "start": 138450938
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138450939G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15379,
          "referenceAllele": "G",
          "start": 15378
        }
      ],
      "hgvs": [
        "NG_007994.1:g.15379G>A",
        "LRG_556:g.15379G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.316G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Gly106Ser",
        "hgvsWellDefined": "ENSP00000218099.2:p.Gly106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.316G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.316G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Gly106Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Gly106Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "referenceAllele": "G",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.316G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Gly106Ser",
        "hgvsWellDefined": "ENSP00000218099.2:p.Gly106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 3728,
          "referenceAllele": "G",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.277+3728G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:n.277+3728G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000479617.2:n.269G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109901",
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.316G>A",
        "LRG_556t1:c.316G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Gly106Ser",
        "hgvsWellDefined": "NP_000124.1:p.Gly106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 3728,
          "referenceAllele": "G",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.277+3728G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:n.277+3728G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 347,
          "referenceAllele": "G",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.316G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Gly106Ser",
        "hgvsWellDefined": "XP_005262454.1:p.Gly106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.316G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Gly106Ser",
        "hgvsWellDefined": "XP_005262454.1:p.Gly106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109901",
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.316G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Gly106Ser",
        "hgvsWellDefined": "NP_000124.1:p.Gly106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.316G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.316G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Gly106Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Gly106Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 3728,
          "referenceAllele": "G",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.277+3728G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:n.277+3728G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}