{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1385059258",
  "communityStandardTitle": [
    "NM_000313.4(PROS1):c.233C= (p.Thr78=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6122",
        "rs": 6122
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 93927251,
          "referenceAllele": "G",
          "start": 93927250
        }
      ],
      "hgvs": [
        "NC_000003.12:g.93927251G=",
        "CM000665.2:g.93927251G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 93646095,
          "referenceAllele": "G",
          "start": 93646094
        }
      ],
      "hgvs": [
        "NC_000003.11:g.93646095G=",
        "CM000665.1:g.93646095G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 95128785,
          "referenceAllele": "G",
          "start": 95128784
        }
      ],
      "hgvs": [
        "NC_000003.10:g.95128785G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51840,
          "referenceAllele": "C",
          "start": 51839
        }
      ],
      "hgvs": [
        "NG_009813.1:g.51840C=",
        "LRG_572:g.51840C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001650"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "referenceAllele": "C",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000348974.5:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330021.7:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000394236.9:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377783.3:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394236.9:c.233C="
          },
          "RefSeq": {
            "hgvs": "NM_000313.4:c.233C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377783.3:p.Thr78="
          },
          "RefSeq": {
            "hgvs": "NP_000304.2:p.Thr78="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000407433.6:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385794.2:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000472684.2:c.-161C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419616.2:n.-161C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000647936.1:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496822.1:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000648381.1:n.401C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000648853.1:c.191C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497262.1:p.Thr64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000649103.1:c.212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497962.1:p.Thr71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000650591.1:c.329C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497376.1:p.Thr110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000348974.4:c.329C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330021.6:p.Thr110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "C",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000394236.7:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377783.3:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000407433.5:c.-161C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385794.1:n.-161C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 234,
          "referenceAllele": "C",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000472684.1:c.-161C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419616.1:n.-161C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825116899",
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_000313.3:c.233C=",
        "LRG_572t1:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000304.2:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826950420",
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_001314077.1:c.329C=",
        "LRG_572t2:c.329C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001301006.1:p.Thr110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825116899",
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_000313.4:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000304.2:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394236.9:c.233C="
          },
          "RefSeq": {
            "hgvs": "NM_000313.4:c.233C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377783.3:p.Thr78="
          },
          "RefSeq": {
            "hgvs": "NP_000304.2:p.Thr78="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826950420",
      "coordinates": [
        {
          "allele": "C",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_001314077.2:c.329C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001301006.1:p.Thr110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717343"
    }
  ],
  "type": "nucleotide"
}