{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343772449",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.1302C>G (p.Phe434Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5984473",
        "active": true,
        "id": "COSM5984473"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173873120G>C?assembly=hg19",
        "id": "chr1:g.173873120G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173903982G>C?assembly=hg38",
        "id": "chr1:g.173903982G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173903982,
          "referenceAllele": "G",
          "start": 173903981
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173903982G>C",
        "CM000663.2:g.173903982G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173873120,
          "referenceAllele": "G",
          "start": 173873119
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173873120G>C",
        "CM000663.1:g.173873120G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 172139743,
          "referenceAllele": "G",
          "start": 172139742
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172139743G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18397,
          "referenceAllele": "C",
          "start": 18396
        }
      ],
      "hgvs": [
        "NG_012462.1:g.18397C>G",
        "LRG_577:g.18397C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.1302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Phe434Leu",
        "hgvsWellDefined": "ENSP00000356671.3:p.Phe434Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1302C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1302C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Phe434Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Phe434Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.1302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Phe434Leu",
        "hgvsWellDefined": "ENSP00000356671.3:p.Phe434Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.687C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Phe229Leu",
        "hgvsWellDefined": "ENSP00000478688.1:p.Phe229Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092831",
      "coordinates": [
        {
          "allele": "G",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.1302C>G",
        "LRG_577t1:c.1302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Phe434Leu",
        "hgvsWellDefined": "NP_000479.1:p.Phe434Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.1158C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Phe386Leu",
        "hgvsWellDefined": "XP_005245255.1:p.Phe386Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164577",
      "coordinates": [
        {
          "allele": "G",
          "end": 1539,
          "referenceAllele": "C",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.1158C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Phe386Leu",
        "hgvsWellDefined": "NP_001351981.1:p.Phe386Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092831",
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.1302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Phe434Leu",
        "hgvsWellDefined": "NP_000479.1:p.Phe434Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1302C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1302C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Phe434Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Phe434Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164577",
      "coordinates": [
        {
          "allele": "G",
          "end": 1539,
          "referenceAllele": "C",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.1158C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Phe386Leu",
        "hgvsWellDefined": "NP_001351981.1:p.Phe386Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580245996",
      "coordinates": [
        {
          "allele": "G",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.1425C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Phe475Leu",
        "hgvsWellDefined": "NP_001373231.1:p.Phe475Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109256",
      "coordinates": [
        {
          "allele": "G",
          "end": 1451,
          "referenceAllele": "C",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.1383C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Phe461Leu",
        "hgvsWellDefined": "NP_001373232.1:p.Phe461Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109500",
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.1281C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Phe427Leu",
        "hgvsWellDefined": "NP_001373233.1:p.Phe427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109740",
      "coordinates": [
        {
          "allele": "G",
          "end": 1313,
          "referenceAllele": "C",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.1245C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Phe415Leu",
        "hgvsWellDefined": "NP_001373234.1:p.Phe415Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109935",
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.1086C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Phe362Leu",
        "hgvsWellDefined": "NP_001373235.1:p.Phe362Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}