{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353668979",
  "communityStandardTitle": [
    "NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1676273[alleleid]",
        "alleleId": 1676273,
        "preferredName": "NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684344",
        "RCV": [
          "RCV002245350",
          "RCV003313797"
        ],
        "variationId": 1684344
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.93603727A>G?assembly=hg19",
        "id": "chr3:g.93603727A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.93884883A>G?assembly=hg38",
        "id": "chr3:g.93884883A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2107137626",
        "rs": 2107137626
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 93884883,
          "referenceAllele": "A",
          "start": 93884882
        }
      ],
      "hgvs": [
        "NC_000003.12:g.93884883A>G",
        "CM000665.2:g.93884883A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 93603727,
          "referenceAllele": "A",
          "start": 93603726
        }
      ],
      "hgvs": [
        "NC_000003.11:g.93603727A>G",
        "CM000665.1:g.93603727A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 95086417,
          "referenceAllele": "A",
          "start": 95086416
        }
      ],
      "hgvs": [
        "NC_000003.10:g.95086417A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94208,
          "referenceAllele": "T",
          "start": 94207
        }
      ],
      "hgvs": [
        "NG_009813.1:g.94208T>C",
        "LRG_572:g.94208T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001650"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1421,
          "referenceAllele": "T",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000348974.5:c.1337T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330021.7:p.Leu446Pro",
        "hgvsWellDefined": "ENSP00000330021.7:p.Leu446Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1484,
          "referenceAllele": "T",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000394236.9:c.1337T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377783.3:p.Leu446Pro",
        "hgvsWellDefined": "ENSP00000377783.3:p.Leu446Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394236.9:c.1337T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000313.4:c.1337T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377783.3:p.Leu446Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000304.2:p.Leu446Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "T",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000407433.6:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385794.2:p.Leu431Pro",
        "hgvsWellDefined": "ENSP00000385794.2:p.Leu431Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1476,
          "referenceAllele": "T",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000647936.1:c.1337T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496822.1:p.Leu446Pro",
        "hgvsWellDefined": "ENSP00000496822.1:p.Leu446Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000648381.1:n.1505T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1621,
          "referenceAllele": "T",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000648853.1:c.1295T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497262.1:p.Leu432Pro",
        "hgvsWellDefined": "ENSP00000497262.1:p.Leu432Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1436,
          "referenceAllele": "T",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000649103.1:c.1436T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497962.1:n.1436T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 92,
          "referenceAllele": "T",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000649585.1:c.92T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498163.1:p.Leu31Pro",
        "hgvsWellDefined": "ENSP00000498163.1:p.Leu31Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1617,
          "referenceAllele": "T",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000650591.1:c.1433T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497376.1:p.Leu478Pro",
        "hgvsWellDefined": "ENSP00000497376.1:p.Leu478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000394236.7:c.1337T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377783.3:p.Leu446Pro",
        "hgvsWellDefined": "ENSP00000377783.3:p.Leu446Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "ENST00000407433.5:c.944T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385794.1:p.Leu315Pro",
        "hgvsWellDefined": "ENSP00000385794.1:p.Leu315Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112424",
      "coordinates": [
        {
          "allele": "C",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_000313.3:c.1337T>C",
        "LRG_572t1:c.1337T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000304.2:p.Leu446Pro",
        "hgvsWellDefined": "NP_000304.2:p.Leu446Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573195995",
      "coordinates": [
        {
          "allele": "C",
          "end": 1765,
          "referenceAllele": "T",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_001314077.1:c.1433T>C",
        "LRG_572t2:c.1433T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001301006.1:p.Leu478Pro",
        "hgvsWellDefined": "NP_001301006.1:p.Leu478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112424",
      "coordinates": [
        {
          "allele": "C",
          "end": 1484,
          "referenceAllele": "T",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_000313.4:c.1337T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000304.2:p.Leu446Pro",
        "hgvsWellDefined": "NP_000304.2:p.Leu446Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394236.9:c.1337T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000313.4:c.1337T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377783.3:p.Leu446Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000304.2:p.Leu446Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573195995",
      "coordinates": [
        {
          "allele": "C",
          "end": 1580,
          "referenceAllele": "T",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009456",
      "geneNCBI_id": 5627,
      "geneSymbol": "PROS1",
      "hgvs": [
        "NM_001314077.2:c.1433T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001301006.1:p.Leu478Pro",
        "hgvsWellDefined": "NP_001301006.1:p.Leu478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717343"
    }
  ],
  "type": "nucleotide"
}