{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343776822",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1320970[alleleid]",
        "alleleId": 1320970,
        "preferredName": "NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1330290",
        "RCV": [
          "RCV001801322"
        ],
        "variationId": 1330290
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173881125T>C?assembly=hg19",
        "id": "chr1:g.173881125T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173911987T>C?assembly=hg38",
        "id": "chr1:g.173911987T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1170430756",
        "rs": 1170430756
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-173881125-T-C?dataset=gnomad_r2_1",
        "id": "1-173881125-T-C",
        "variant": "1:173881125 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-173911987-T-C?dataset=gnomad_r4",
        "id": "1-173911987-T-C",
        "variant": "1:173911987 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173911987,
          "referenceAllele": "T",
          "start": 173911986
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173911987T>C",
        "CM000663.2:g.173911987T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 173881125,
          "referenceAllele": "T",
          "start": 173881124
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173881125T>C",
        "CM000663.1:g.173881125T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 172147748,
          "referenceAllele": "T",
          "start": 172147747
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172147748T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10392,
          "referenceAllele": "A",
          "start": 10391
        }
      ],
      "hgvs": [
        "NG_012462.1:g.10392A>G",
        "LRG_577:g.10392A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.436A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Lys146Glu",
        "hgvsWellDefined": "ENSP00000356671.3:p.Lys146Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.436A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.436A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Lys146Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Lys146Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.436A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Lys146Glu",
        "hgvsWellDefined": "ENSP00000356671.3:p.Lys146Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 141,
          "referenceAllele": "A",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000487183.1:n.141A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325809"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "A",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000494024.1:n.662A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.436A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Lys146Glu",
        "hgvsWellDefined": "ENSP00000478688.1:p.Lys146Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092751",
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.436A>G",
        "LRG_577t1:c.436A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Lys146Glu",
        "hgvsWellDefined": "NP_000479.1:p.Lys146Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "referenceAllele": "A",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.292A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Lys98Glu",
        "hgvsWellDefined": "XP_005245255.1:p.Lys98Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573071791",
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "referenceAllele": "A",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.292A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Lys98Glu",
        "hgvsWellDefined": "NP_001351981.1:p.Lys98Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092751",
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.436A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Lys146Glu",
        "hgvsWellDefined": "NP_000479.1:p.Lys146Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.436A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.436A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Lys146Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Lys146Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573071791",
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "referenceAllele": "A",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.292A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Lys98Glu",
        "hgvsWellDefined": "NP_001351981.1:p.Lys98Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109003",
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.436A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Lys146Glu",
        "hgvsWellDefined": "NP_001373231.1:p.Lys146Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109144",
      "coordinates": [
        {
          "allele": "G",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.517A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Lys173Glu",
        "hgvsWellDefined": "NP_001373232.1:p.Lys173Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109349",
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.436A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Lys146Glu",
        "hgvsWellDefined": "NP_001373233.1:p.Lys146Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109592",
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.436A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Lys146Glu",
        "hgvsWellDefined": "NP_001373234.1:p.Lys146Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 476,
          "endIntronDirection": "-",
          "endIntronOffset": 1095,
          "referenceAllele": "A",
          "start": 476,
          "startIntronDirection": "-",
          "startIntronOffset": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.409-1096A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:n.409-1096A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}