{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA380694437",
  "communityStandardTitle": [
    "NM_000062.3(SERPING1):c.121G>T (p.Gly41Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2956740[alleleid]",
        "alleleId": 2956740,
        "preferredName": "NM_000062.3(SERPING1):c.121G>T (p.Gly41Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2789132",
        "RCV": [
          "RCV003674528"
        ],
        "variationId": 2789132
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.57367421G>T?assembly=hg19",
        "id": "chr11:g.57367421G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.57599948G>T?assembly=hg38",
        "id": "chr11:g.57599948G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1945328184",
        "rs": 1945328184
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 57599948,
          "referenceAllele": "G",
          "start": 57599947
        }
      ],
      "hgvs": [
        "NC_000011.10:g.57599948G>T",
        "CM000673.2:g.57599948G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 57367421,
          "referenceAllele": "G",
          "start": 57367420
        }
      ],
      "hgvs": [
        "NC_000011.9:g.57367421G>T",
        "CM000673.1:g.57367421G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 57123997,
          "referenceAllele": "G",
          "start": 57123996
        }
      ],
      "hgvs": [
        "NC_000011.8:g.57123997G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7395,
          "referenceAllele": "G",
          "start": 7394
        }
      ],
      "hgvs": [
        "NG_009625.1:g.7395G>T",
        "LRG_105:g.7395G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001617"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000278407.9:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278407.4:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000278407.4:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743481",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278407.9:c.121G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000062.3:c.121G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278407.4:p.Gly41Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000053.2:p.Gly41Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "endIntronDirection": "+",
          "endIntronOffset": 1620,
          "referenceAllele": "G",
          "start": 100,
          "startIntronDirection": "+",
          "startIntronOffset": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000528996.2:c.58+1620G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431226.2:n.58+1620G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99,
          "endIntronDirection": "+",
          "endIntronOffset": 1627,
          "referenceAllele": "G",
          "start": 99,
          "startIntronDirection": "+",
          "startIntronOffset": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531605.2:c.51+1627G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503752.1:n.51+1627G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "G",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000619430.2:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478572.2:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000478572.2:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000676670.1:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504807.1:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000504807.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000676741.1:n.1203G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677275.1:n.108G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677624.1:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503979.1:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000503979.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677625.1:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502857.1:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000502857.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677856.1:n.180G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000677915.1:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503118.1:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000503118.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 1627,
          "referenceAllele": "G",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000678533.1:c.51+1627G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503873.1:n.51+1627G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000678592.1:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504424.1:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000504424.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000278407.8:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278407.4:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000278407.4:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000340687.10:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341861.6:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000341861.6:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "G",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000378323.8:c.136G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367574.4:p.Gly46Cys",
        "hgvsWellDefined": "ENSP00000367574.4:p.Gly46Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 103,
          "referenceAllele": "G",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000378324.6:c.-36G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367575.2:n.-36G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000403558.1:c.223G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384420.1:p.Gly75Cys",
        "hgvsWellDefined": "ENSP00000384420.1:p.Gly75Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000405496.5:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384561.1:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000384561.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000457869.1:c.223G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399746.1:p.Gly75Cys",
        "hgvsWellDefined": "ENSP00000399746.1:p.Gly75Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51,
          "endIntronDirection": "+",
          "endIntronOffset": 1627,
          "referenceAllele": "G",
          "start": 51,
          "startIntronDirection": "+",
          "startIntronOffset": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531133.5:c.51+1627G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435431.1:n.51+1627G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 1627,
          "referenceAllele": "G",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000531797.5:c.51+1627G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432554.1:n.51+1627G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "ENST00000619430.1:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478572.1:p.Gly41Cys",
        "hgvsWellDefined": "ENSP00000478572.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029157",
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_000062.2:c.121G>T",
        "LRG_105t1:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000053.2:p.Gly41Cys",
        "hgvsWellDefined": "NP_000053.2:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741819146",
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "G",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_001032295.1:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027466.1:p.Gly41Cys",
        "hgvsWellDefined": "NP_001027466.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029157",
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_000062.3:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000053.2:p.Gly41Cys",
        "hgvsWellDefined": "NP_000053.2:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674682",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278407.9:c.121G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000062.3:c.121G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278407.4:p.Gly41Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000053.2:p.Gly41Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741819146",
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001228",
      "geneNCBI_id": 710,
      "geneSymbol": "SERPING1",
      "hgvs": [
        "NM_001032295.2:c.121G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027466.1:p.Gly41Cys",
        "hgvsWellDefined": "NP_001027466.1:p.Gly41Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675763"
    }
  ],
  "type": "nucleotide"
}