{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343776693",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1676243[alleleid]",
        "alleleId": 1676243,
        "preferredName": "NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684314",
        "RCV": [
          "RCV002245320"
        ],
        "variationId": 1684314
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173881088A>G?assembly=hg19",
        "id": "chr1:g.173881088A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173911950A>G?assembly=hg38",
        "id": "chr1:g.173911950A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2102786101",
        "rs": 2102786101
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 173911950,
          "referenceAllele": "A",
          "start": 173911949
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173911950A>G",
        "CM000663.2:g.173911950A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 173881088,
          "referenceAllele": "A",
          "start": 173881087
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173881088A>G",
        "CM000663.1:g.173881088A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 172147711,
          "referenceAllele": "A",
          "start": 172147710
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172147711A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10429,
          "referenceAllele": "T",
          "start": 10428
        }
      ],
      "hgvs": [
        "NG_012462.1:g.10429T>C",
        "LRG_577:g.10429T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "T",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.473T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Leu158Pro",
        "hgvsWellDefined": "ENSP00000356671.3:p.Leu158Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.473T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.473T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Leu158Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Leu158Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.473T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Leu158Pro",
        "hgvsWellDefined": "ENSP00000356671.3:p.Leu158Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 178,
          "referenceAllele": "T",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000487183.1:n.178T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.473T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Leu158Pro",
        "hgvsWellDefined": "ENSP00000478688.1:p.Leu158Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092692",
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.473T>C",
        "LRG_577t1:c.473T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Leu158Pro",
        "hgvsWellDefined": "NP_000479.1:p.Leu158Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "T",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Leu110Pro",
        "hgvsWellDefined": "XP_005245255.1:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164426",
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "T",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Leu110Pro",
        "hgvsWellDefined": "NP_001351981.1:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092692",
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "T",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.473T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Leu158Pro",
        "hgvsWellDefined": "NP_000479.1:p.Leu158Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.473T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.473T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Leu158Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Leu158Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164426",
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "T",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Leu110Pro",
        "hgvsWellDefined": "NP_001351981.1:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109011",
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "T",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.473T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Leu158Pro",
        "hgvsWellDefined": "NP_001373231.1:p.Leu158Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573216812",
      "coordinates": [
        {
          "allele": "C",
          "end": 622,
          "referenceAllele": "T",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.554T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Leu185Pro",
        "hgvsWellDefined": "NP_001373232.1:p.Leu185Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109357",
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "T",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.473T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Leu158Pro",
        "hgvsWellDefined": "NP_001373233.1:p.Leu158Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109600",
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "T",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.473T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Leu158Pro",
        "hgvsWellDefined": "NP_001373234.1:p.Leu158Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 476,
          "endIntronDirection": "-",
          "endIntronOffset": 1058,
          "referenceAllele": "T",
          "start": 476,
          "startIntronDirection": "-",
          "startIntronOffset": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.409-1059T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:n.409-1059T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}