{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581228",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.1306G= (p.Ala436=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909546",
        "rs": 121909546
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173903978,
          "referenceAllele": "C",
          "start": 173903977
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173903978C=",
        "CM000663.2:g.173903978C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173873116,
          "referenceAllele": "C",
          "start": 173873115
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173873116C=",
        "CM000663.1:g.173873116C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 172139739,
          "referenceAllele": "C",
          "start": 172139738
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172139739C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18401,
          "referenceAllele": "G",
          "start": 18400
        }
      ],
      "hgvs": [
        "NG_012462.1:g.18401G=",
        "LRG_577:g.18401G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1374,
          "referenceAllele": "G",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.1306G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Ala436="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1306G="
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1306G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Ala436="
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Ala436="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.1306G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Ala436="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.691G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Ala231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916457",
      "coordinates": [
        {
          "allele": "G",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.1306G=",
        "LRG_577t1:c.1306G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Ala436="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1557,
          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.1162G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Ala388="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.1162G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Ala388="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916457",
      "coordinates": [
        {
          "allele": "G",
          "end": 1374,
          "referenceAllele": "G",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.1306G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Ala436="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1306G="
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1306G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Ala436="
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Ala436="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.1162G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Ala388="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.1429G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Ala477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "referenceAllele": "G",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Ala463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1353,
          "referenceAllele": "G",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.1285G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Ala429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Ala417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.1090G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Ala364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}