{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210764",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33056[alleleid]",
        "alleleId": 33056,
        "preferredName": "NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18017",
        "RCV": [
          "RCV000019633"
        ],
        "variationId": 18017
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173873106G>A?assembly=hg19",
        "id": "chr1:g.173873106G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173903968G>A?assembly=hg38",
        "id": "chr1:g.173903968G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909555",
        "rs": 121909555
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 173903968,
          "referenceAllele": "G",
          "start": 173903967
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173903968G>A",
        "CM000663.2:g.173903968G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 173873106,
          "referenceAllele": "G",
          "start": 173873105
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173873106G>A",
        "CM000663.1:g.173873106G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 172139729,
          "referenceAllele": "G",
          "start": 172139728
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172139729G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18411,
          "referenceAllele": "C",
          "start": 18410
        }
      ],
      "hgvs": [
        "NG_012462.1:g.18411C>T",
        "LRG_577:g.18411C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Pro439Leu",
        "hgvsWellDefined": "ENSP00000356671.3:p.Pro439Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1316C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1316C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Pro439Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Pro439Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Pro439Leu",
        "hgvsWellDefined": "ENSP00000356671.3:p.Pro439Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.701C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Pro234Leu",
        "hgvsWellDefined": "ENSP00000478688.1:p.Pro234Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092885",
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.1316C>T",
        "LRG_577t1:c.1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Pro439Leu",
        "hgvsWellDefined": "NP_000479.1:p.Pro439Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.1172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Pro391Leu",
        "hgvsWellDefined": "XP_005245255.1:p.Pro391Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164581",
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.1172C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Pro391Leu",
        "hgvsWellDefined": "NP_001351981.1:p.Pro391Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092885",
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Pro439Leu",
        "hgvsWellDefined": "NP_000479.1:p.Pro439Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1316C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1316C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Pro439Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Pro439Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164581",
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.1172C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Pro391Leu",
        "hgvsWellDefined": "NP_001351981.1:p.Pro391Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573079516",
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "C",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.1439C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Pro480Leu",
        "hgvsWellDefined": "NP_001373231.1:p.Pro480Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109262",
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.1397C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Pro466Leu",
        "hgvsWellDefined": "NP_001373232.1:p.Pro466Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109506",
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Pro432Leu",
        "hgvsWellDefined": "NP_001373233.1:p.Pro432Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109747",
      "coordinates": [
        {
          "allele": "T",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.1259C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Pro420Leu",
        "hgvsWellDefined": "NP_001373234.1:p.Pro420Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109939",
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.1100C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Pro367Leu",
        "hgvsWellDefined": "NP_001373235.1:p.Pro367Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}