{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1385039107",
  "communityStandardTitle": [
    "NM_000313.4(PROS1):c.835C= (p.Gln279=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918475",
        "rs": 121918475
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 93898462,
          "referenceAllele": "G",
          "start": 93898461
        }
      ],
      "hgvs": [
        "NC_000003.12:g.93898462G=",
        "CM000665.2:g.93898462G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 93617306,
          "referenceAllele": "G",
          "start": 93617305
        }
      ],
      "hgvs": [
        "NC_000003.11:g.93617306G=",
        "CM000665.1:g.93617306G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 95099996,
          "referenceAllele": "G",
          "start": 95099995
        }
      ],
      "hgvs": [
        "NC_000003.10:g.95099996G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 80629,
          "referenceAllele": "C",
          "start": 80628
        }
      ],
      "hgvs": [
        "NG_009813.1:g.80629C=",
        "LRG_572:g.80629C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001650"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000348974.5:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330021.7:p.Gln279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000394236.9:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377783.3:p.Gln279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394236.9:c.835C="
          },
          "RefSeq": {
            "hgvs": "NM_000313.4:c.835C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377783.3:p.Gln279="
          },
          "RefSeq": {
            "hgvs": "NP_000304.2:p.Gln279="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000407433.6:c.790C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385794.2:p.Gln264="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000647936.1:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496822.1:p.Gln279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000648381.1:n.1003C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000648853.1:c.793C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497262.1:p.Gln265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000649103.1:c.934C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497962.1:n.934C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000650591.1:c.931C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497376.1:p.Gln311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000394236.7:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377783.3:p.Gln279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000407433.5:c.442C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385794.1:p.Gln148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068390398",
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_000313.3:c.835C=",
        "LRG_572t1:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000304.2:p.Gln279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_001314077.1:c.931C=",
        "LRG_572t2:c.931C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001301006.1:p.Gln311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068390398",
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_000313.4:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000304.2:p.Gln279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394236.9:c.835C="
          },
          "RefSeq": {
            "hgvs": "NM_000313.4:c.835C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377783.3:p.Gln279="
          },
          "RefSeq": {
            "hgvs": "NP_000304.2:p.Gln279="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_001314077.2:c.931C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001301006.1:p.Gln311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717343"
    }
  ],
  "type": "nucleotide"
}