{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581237",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.1271G= (p.Gly424=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909566",
        "rs": 121909566
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173904013,
          "referenceAllele": "C",
          "start": 173904012
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173904013C=",
        "CM000663.2:g.173904013C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173873151,
          "referenceAllele": "C",
          "start": 173873150
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173873151C=",
        "CM000663.1:g.173873151C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 172139774,
          "referenceAllele": "C",
          "start": 172139773
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172139774C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18366,
          "referenceAllele": "G",
          "start": 18365
        }
      ],
      "hgvs": [
        "NG_012462.1:g.18366G=",
        "LRG_577:g.18366G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.1271G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Gly424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1271G="
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1271G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Gly424="
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Gly424="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.1271G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Gly424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.656G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Gly219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916456",
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.1271G=",
        "LRG_577t1:c.1271G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Gly424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.1127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "G",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.1127G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916456",
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.1271G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Gly424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1271G="
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1271G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Gly424="
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Gly424="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "G",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.1127G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Gly376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.1394G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Gly465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1420,
          "referenceAllele": "G",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.1352G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Gly451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.1250G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Gly417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.1214G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Gly405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1123,
          "referenceAllele": "G",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.1055G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Gly352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}