{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343772104",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1928533[alleleid]",
        "alleleId": 1928533,
        "preferredName": "NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2202883",
        "RCV": [
          "RCV002664191"
        ],
        "variationId": 2202883
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173873056C>G?assembly=hg19",
        "id": "chr1:g.173873056C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173903918C>G?assembly=hg38",
        "id": "chr1:g.173903918C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2526542281",
        "rs": 2526542281
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 173903918,
          "referenceAllele": "C",
          "start": 173903917
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173903918C>G",
        "CM000663.2:g.173903918C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 173873056,
          "referenceAllele": "C",
          "start": 173873055
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173873056C>G",
        "CM000663.1:g.173873056C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 172139679,
          "referenceAllele": "C",
          "start": 172139678
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172139679C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18461,
          "referenceAllele": "G",
          "start": 18460
        }
      ],
      "hgvs": [
        "NG_012462.1:g.18461G>C",
        "LRG_577:g.18461G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1434,
          "referenceAllele": "G",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.1366G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Gly456Arg",
        "hgvsWellDefined": "ENSP00000356671.3:p.Gly456Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1366G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1366G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Gly456Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Gly456Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.1366G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Gly456Arg",
        "hgvsWellDefined": "ENSP00000356671.3:p.Gly456Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.751G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Gly251Arg",
        "hgvsWellDefined": "ENSP00000478688.1:p.Gly251Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092596",
      "coordinates": [
        {
          "allele": "C",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.1366G>C",
        "LRG_577t1:c.1366G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Gly456Arg",
        "hgvsWellDefined": "NP_000479.1:p.Gly456Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.1222G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Gly408Arg",
        "hgvsWellDefined": "XP_005245255.1:p.Gly408Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164591",
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.1222G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Gly408Arg",
        "hgvsWellDefined": "NP_001351981.1:p.Gly408Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092596",
      "coordinates": [
        {
          "allele": "C",
          "end": 1434,
          "referenceAllele": "G",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.1366G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Gly456Arg",
        "hgvsWellDefined": "NP_000479.1:p.Gly456Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1366G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1366G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Gly456Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Gly456Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164591",
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.1222G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Gly408Arg",
        "hgvsWellDefined": "NP_001351981.1:p.Gly408Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580245998",
      "coordinates": [
        {
          "allele": "C",
          "end": 1557,
          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.1489G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Gly497Arg",
        "hgvsWellDefined": "NP_001373231.1:p.Gly497Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109271",
      "coordinates": [
        {
          "allele": "C",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Gly483Arg",
        "hgvsWellDefined": "NP_001373232.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109514",
      "coordinates": [
        {
          "allele": "C",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.1345G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Gly449Arg",
        "hgvsWellDefined": "NP_001373233.1:p.Gly449Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109755",
      "coordinates": [
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Gly437Arg",
        "hgvsWellDefined": "NP_001373234.1:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109949",
      "coordinates": [
        {
          "allele": "C",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.1150G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Gly384Arg",
        "hgvsWellDefined": "NP_001373235.1:p.Gly384Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}