{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA380690721",
  "communityStandardTitle": [
    "NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=480575[alleleid]",
        "alleleId": 480575,
        "preferredName": "NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/487524",
        "RCV": [
          "RCV000576893"
        ],
        "variationId": 487524
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.57381936T>G?assembly=hg19",
        "id": "chr11:g.57381936T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.57614463T>G?assembly=hg38",
        "id": "chr11:g.57614463T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763451792",
        "rs": 763451792
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 57614463,
          "referenceAllele": "T",
          "start": 57614462
        }
      ],
      "hgvs": [
        "NC_000011.10:g.57614463T>G",
        "CM000673.2:g.57614463T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 57381936,
          "referenceAllele": "T",
          "start": 57381935
        }
      ],
      "hgvs": [
        "NC_000011.9:g.57381936T>G",
        "CM000673.1:g.57381936T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 57138512,
          "referenceAllele": "T",
          "start": 57138511
        }
      ],
      "hgvs": [
        "NC_000011.8:g.57138512T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21910,
          "referenceAllele": "T",
          "start": 21909
        }
      ],
      "hgvs": [
        "NG_009625.1:g.21910T>G",
        "LRG_105:g.21910T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001617"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1445,
          "referenceAllele": "T",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000278407.9:c.1385T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278407.4:p.Ile462Ser",
        "hgvsWellDefined": "ENSP00000278407.4:p.Ile462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743481",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278407.9:c.1385T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000062.3:c.1385T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278407.4:p.Ile462Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000053.2:p.Ile462Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000528996.2:c.*282T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431226.2:n.*282T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "T",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531605.2:c.*1161T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503752.1:n.*1161T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1363,
          "referenceAllele": "T",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000619430.2:c.1181T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478572.2:p.Ile394Ser",
        "hgvsWellDefined": "ENSP00000478572.2:p.Ile394Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1472,
          "referenceAllele": "T",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000676670.1:c.1385T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504807.1:p.Ile462Ser",
        "hgvsWellDefined": "ENSP00000504807.1:p.Ile462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2467,
          "referenceAllele": "T",
          "start": 2466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000676741.1:n.2467T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677624.1:c.*805T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503979.1:n.*805T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777282"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677625.1:c.1331T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502857.1:p.Ile444Ser",
        "hgvsWellDefined": "ENSP00000502857.1:p.Ile444Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1638,
          "referenceAllele": "T",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677856.1:n.1638T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "referenceAllele": "T",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677915.1:c.*282T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503118.1:n.*282T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000678533.1:c.*939T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503873.1:n.*939T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1561,
          "referenceAllele": "T",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000678592.1:c.*325T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504424.1:n.*325T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1612,
          "referenceAllele": "T",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000278407.8:c.1385T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278407.4:p.Ile462Ser",
        "hgvsWellDefined": "ENSP00000278407.4:p.Ile462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1336,
          "referenceAllele": "T",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000340687.10:c.1274T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341861.6:p.Ile425Ser",
        "hgvsWellDefined": "ENSP00000341861.6:p.Ile425Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1457,
          "referenceAllele": "T",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000378323.8:c.1400T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367574.4:p.Ile467Ser",
        "hgvsWellDefined": "ENSP00000367574.4:p.Ile467Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "T",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000378324.6:c.1229T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367575.2:p.Ile410Ser",
        "hgvsWellDefined": "ENSP00000367575.2:p.Ile410Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1880,
          "referenceAllele": "T",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000403558.1:c.1514T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384420.1:p.Ile505Ser",
        "hgvsWellDefined": "ENSP00000384420.1:p.Ile505Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "T",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000528996.1:c.586T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431226.1:n.586T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "T",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000530113.1:n.842T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "T",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531133.5:c.886T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435431.1:n.886T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "T",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531797.5:c.*410T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432554.1:n.*410T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "T",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000619430.1:c.516T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478572.1:n.516T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658673567",
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "T",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_000062.2:c.1385T>G",
        "LRG_105t1:c.1385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000053.2:p.Ile462Ser",
        "hgvsWellDefined": "NP_000053.2:p.Ile462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957620",
      "coordinates": [
        {
          "allele": "G",
          "end": 1424,
          "referenceAllele": "T",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_001032295.1:c.1385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027466.1:p.Ile462Ser",
        "hgvsWellDefined": "NP_001027466.1:p.Ile462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658673567",
      "coordinates": [
        {
          "allele": "G",
          "end": 1445,
          "referenceAllele": "T",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_000062.3:c.1385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000053.2:p.Ile462Ser",
        "hgvsWellDefined": "NP_000053.2:p.Ile462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674682",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278407.9:c.1385T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000062.3:c.1385T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278407.4:p.Ile462Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000053.2:p.Ile462Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957620",
      "coordinates": [
        {
          "allele": "G",
          "end": 1445,
          "referenceAllele": "T",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_001032295.2:c.1385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027466.1:p.Ile462Ser",
        "hgvsWellDefined": "NP_001027466.1:p.Ile462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675763"
    }
  ],
  "type": "nucleotide"
}