{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343773673",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.1055T>G (p.Met352Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173878788A>C?assembly=hg19",
        "id": "chr1:g.173878788A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173909650A>C?assembly=hg38",
        "id": "chr1:g.173909650A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173909650,
          "referenceAllele": "A",
          "start": 173909649
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173909650A>C",
        "CM000663.2:g.173909650A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173878788,
          "referenceAllele": "A",
          "start": 173878787
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173878788A>C",
        "CM000663.1:g.173878788A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 172145411,
          "referenceAllele": "A",
          "start": 172145410
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172145411A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12729,
          "referenceAllele": "T",
          "start": 12728
        }
      ],
      "hgvs": [
        "NG_012462.1:g.12729T>G",
        "LRG_577:g.12729T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1123,
          "referenceAllele": "T",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.1055T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Met352Arg",
        "hgvsWellDefined": "ENSP00000356671.3:p.Met352Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1055T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1055T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Met352Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Met352Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.1055T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Met352Arg",
        "hgvsWellDefined": "ENSP00000356671.3:p.Met352Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 678,
          "endIntronDirection": "-",
          "endIntronOffset": 2156,
          "referenceAllele": "T",
          "start": 678,
          "startIntronDirection": "-",
          "startIntronOffset": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.560-2157T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:n.560-2157T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.1055T>G",
        "LRG_577t1:c.1055T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Met352Arg",
        "hgvsWellDefined": "NP_000479.1:p.Met352Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "T",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.911T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Met304Arg",
        "hgvsWellDefined": "XP_005245255.1:p.Met304Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1292,
          "referenceAllele": "T",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.911T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Met304Arg",
        "hgvsWellDefined": "NP_001351981.1:p.Met304Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1123,
          "referenceAllele": "T",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.1055T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Met352Arg",
        "hgvsWellDefined": "NP_000479.1:p.Met352Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1055T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1055T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Met352Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Met352Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1292,
          "referenceAllele": "T",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.911T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Met304Arg",
        "hgvsWellDefined": "NP_001351981.1:p.Met304Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
          "referenceAllele": "T",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.1178T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Met393Arg",
        "hgvsWellDefined": "NP_001373231.1:p.Met393Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1204,
          "referenceAllele": "T",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.1136T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Met379Arg",
        "hgvsWellDefined": "NP_001373232.1:p.Met379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1102,
          "referenceAllele": "T",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.1034T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Met345Arg",
        "hgvsWellDefined": "NP_001373233.1:p.Met345Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.998T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Met333Arg",
        "hgvsWellDefined": "NP_001373234.1:p.Met333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "T",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.839T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Met280Arg",
        "hgvsWellDefined": "NP_001373235.1:p.Met280Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}