{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343772379",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.1313G>T (p.Arg438Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3401348[alleleid]",
        "alleleId": 3401348,
        "preferredName": "NM_000488.4(SERPINC1):c.1313G>T (p.Arg438Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3242372",
        "RCV": [
          "RCV004577657"
        ],
        "variationId": 3242372
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173873109C>A?assembly=hg19",
        "id": "chr1:g.173873109C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173903971C>A?assembly=hg38",
        "id": "chr1:g.173903971C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2526542694",
        "rs": 2526542694
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 173903971,
          "referenceAllele": "C",
          "start": 173903970
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173903971C>A",
        "CM000663.2:g.173903971C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 173873109,
          "referenceAllele": "C",
          "start": 173873108
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173873109C>A",
        "CM000663.1:g.173873109C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 172139732,
          "referenceAllele": "C",
          "start": 172139731
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172139732C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18408,
          "referenceAllele": "G",
          "start": 18407
        }
      ],
      "hgvs": [
        "NG_012462.1:g.18408G>T",
        "LRG_577:g.18408G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.1313G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Arg438Met",
        "hgvsWellDefined": "ENSP00000356671.3:p.Arg438Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1313G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1313G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Arg438Met"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Arg438Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1432,
          "referenceAllele": "G",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.1313G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Arg438Met",
        "hgvsWellDefined": "ENSP00000356671.3:p.Arg438Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.698G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Arg233Met",
        "hgvsWellDefined": "ENSP00000478688.1:p.Arg233Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092393",
      "coordinates": [
        {
          "allele": "T",
          "end": 1432,
          "referenceAllele": "G",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.1313G>T",
        "LRG_577t1:c.1313G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Arg438Met",
        "hgvsWellDefined": "NP_000479.1:p.Arg438Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "G",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.1169G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Arg390Met",
        "hgvsWellDefined": "XP_005245255.1:p.Arg390Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.1169G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Arg390Met",
        "hgvsWellDefined": "NP_001351981.1:p.Arg390Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092393",
      "coordinates": [
        {
          "allele": "T",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.1313G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Arg438Met",
        "hgvsWellDefined": "NP_000479.1:p.Arg438Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.1313G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.1313G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Arg438Met"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Arg438Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.1169G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Arg390Met",
        "hgvsWellDefined": "NP_001351981.1:p.Arg390Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "G",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.1436G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Arg479Met",
        "hgvsWellDefined": "NP_001373231.1:p.Arg479Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Arg465Met",
        "hgvsWellDefined": "NP_001373232.1:p.Arg465Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.1292G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Arg431Met",
        "hgvsWellDefined": "NP_001373233.1:p.Arg431Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Arg419Met",
        "hgvsWellDefined": "NP_001373234.1:p.Arg419Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057250270",
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.1097G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Arg366Met",
        "hgvsWellDefined": "NP_001373235.1:p.Arg366Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}