{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6007987",
  "communityStandardTitle": [
    "NM_000062.3(SERPING1):c.167T>C (p.Val56Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5765699"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=327010[alleleid]",
        "alleleId": 327010,
        "preferredName": "NM_000062.3(SERPING1):c.167T>C (p.Val56Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305020",
        "RCV": [
          "RCV000320487",
          "RCV000861052",
          "RCV003920257"
        ],
        "variationId": 305020
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-57367467-T-C",
        "id": "11-57367467-T-C",
        "variant": "11:57367467 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.57367467T>C?assembly=hg19",
        "id": "chr11:g.57367467T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.57599994T>C?assembly=hg38",
        "id": "chr11:g.57599994T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11546660",
        "rs": 11546660
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-57367467-T-C?dataset=gnomad_r2_1",
        "id": "11-57367467-T-C",
        "variant": "11:57367467 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-57599994-T-C?dataset=gnomad_r3",
        "id": "11-57599994-T-C",
        "variant": "11:57599994 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-57599994-T-C?dataset=gnomad_r4",
        "id": "11-57599994-T-C",
        "variant": "11:57599994 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 57599994,
          "referenceAllele": "T",
          "start": 57599993
        }
      ],
      "hgvs": [
        "NC_000011.10:g.57599994T>C",
        "CM000673.2:g.57599994T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 57367467,
          "referenceAllele": "T",
          "start": 57367466
        }
      ],
      "hgvs": [
        "NC_000011.9:g.57367467T>C",
        "CM000673.1:g.57367467T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 57124043,
          "referenceAllele": "T",
          "start": 57124042
        }
      ],
      "hgvs": [
        "NC_000011.8:g.57124043T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7441,
          "referenceAllele": "T",
          "start": 7440
        }
      ],
      "hgvs": [
        "NG_009625.1:g.7441T>C",
        "LRG_105:g.7441T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001617"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "T",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000278407.9:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278407.4:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000278407.4:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743481",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278407.9:c.167T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000062.3:c.167T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278407.4:p.Val56Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000053.2:p.Val56Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "endIntronDirection": "+",
          "endIntronOffset": 1666,
          "referenceAllele": "T",
          "start": 100,
          "startIntronDirection": "+",
          "startIntronOffset": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000528996.2:c.58+1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431226.2:n.58+1666T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99,
          "endIntronDirection": "+",
          "endIntronOffset": 1673,
          "referenceAllele": "T",
          "start": 99,
          "startIntronDirection": "+",
          "startIntronOffset": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531605.2:c.51+1673T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503752.1:n.51+1673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "referenceAllele": "T",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000619430.2:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478572.2:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000478572.2:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000676670.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504807.1:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000504807.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "referenceAllele": "T",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000676741.1:n.1249T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154,
          "referenceAllele": "T",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677275.1:n.154T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "referenceAllele": "T",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677624.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503979.1:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000503979.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677625.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502857.1:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000502857.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "referenceAllele": "T",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677856.1:n.226T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "referenceAllele": "T",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677915.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503118.1:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000503118.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 1673,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000678533.1:c.51+1673T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503873.1:n.51+1673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000678592.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504424.1:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000504424.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "T",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000278407.8:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278407.4:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000278407.4:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 229,
          "referenceAllele": "T",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000340687.10:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341861.6:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000341861.6:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 239,
          "referenceAllele": "T",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000378323.8:c.182T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367574.4:p.Val61Ala",
        "hgvsWellDefined": "ENSP00000367574.4:p.Val61Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 149,
          "referenceAllele": "T",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000378324.6:c.11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367575.2:p.Val4Ala",
        "hgvsWellDefined": "ENSP00000367575.2:p.Val4Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 635,
          "referenceAllele": "T",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000403558.1:c.269T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384420.1:p.Val90Ala",
        "hgvsWellDefined": "ENSP00000384420.1:p.Val90Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000405496.5:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384561.1:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000384561.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "referenceAllele": "T",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000457869.1:c.269T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399746.1:p.Val90Ala",
        "hgvsWellDefined": "ENSP00000399746.1:p.Val90Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51,
          "endIntronDirection": "+",
          "endIntronOffset": 1673,
          "referenceAllele": "T",
          "start": 51,
          "startIntronDirection": "+",
          "startIntronOffset": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531133.5:c.51+1673T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435431.1:n.51+1673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 1673,
          "referenceAllele": "T",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531797.5:c.51+1673T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432554.1:n.51+1673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167,
          "referenceAllele": "T",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000619430.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478572.1:p.Val56Ala",
        "hgvsWellDefined": "ENSP00000478572.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474070",
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_000062.2:c.167T>C",
        "LRG_105t1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000053.2:p.Val56Ala",
        "hgvsWellDefined": "NP_000053.2:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957579",
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "T",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_001032295.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027466.1:p.Val56Ala",
        "hgvsWellDefined": "NP_001027466.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474070",
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "T",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_000062.3:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000053.2:p.Val56Ala",
        "hgvsWellDefined": "NP_000053.2:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674682",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278407.9:c.167T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000062.3:c.167T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278407.4:p.Val56Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000053.2:p.Val56Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957579",
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "T",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_001032295.2:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027466.1:p.Val56Ala",
        "hgvsWellDefined": "NP_001027466.1:p.Val56Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675763"
    }
  ],
  "type": "nucleotide"
}