{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1251332",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=390949[alleleid]",
        "alleleId": 390949,
        "preferredName": "NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410383",
        "RCV": [
          "RCV000471250",
          "RCV003480641"
        ],
        "variationId": 410383
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-173879038-C-T",
        "id": "1-173879038-C-T",
        "variant": "1:173879038 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173879038C>T?assembly=hg19",
        "id": "chr1:g.173879038C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173909900C>T?assembly=hg38",
        "id": "chr1:g.173909900C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758087836",
        "rs": 758087836
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-173879038-C-T?dataset=gnomad_r2_1",
        "id": "1-173879038-C-T",
        "variant": "1:173879038 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-173909900-C-T?dataset=gnomad_r3",
        "id": "1-173909900-C-T",
        "variant": "1:173909900 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-173909900-C-T?dataset=gnomad_r4",
        "id": "1-173909900-C-T",
        "variant": "1:173909900 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 173909900,
          "referenceAllele": "C",
          "start": 173909899
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173909900C>T",
        "CM000663.2:g.173909900C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 173879038,
          "referenceAllele": "C",
          "start": 173879037
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173879038C>T",
        "CM000663.1:g.173879038C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 172145661,
          "referenceAllele": "C",
          "start": 172145660
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172145661C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12479,
          "referenceAllele": "G",
          "start": 12478
        }
      ],
      "hgvs": [
        "NG_012462.1:g.12479G>A",
        "LRG_577:g.12479G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000356671.3:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.805G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.805G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Glu269Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Glu269Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000356671.3:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000487183.1:n.456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "endIntronDirection": "+",
          "endIntronOffset": 1964,
          "referenceAllele": "G",
          "start": 678,
          "startIntronDirection": "+",
          "startIntronOffset": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.559+1964G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:n.559+1964G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092562",
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.805G>A",
        "LRG_577t1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_000479.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Glu221Lys",
        "hgvsWellDefined": "XP_005245255.1:p.Glu221Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Glu221Lys",
        "hgvsWellDefined": "NP_001351981.1:p.Glu221Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092562",
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_000479.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.805G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.805G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Glu269Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Glu269Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Glu221Lys",
        "hgvsWellDefined": "NP_001351981.1:p.Glu221Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573079476",
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.928G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Glu310Lys",
        "hgvsWellDefined": "NP_001373231.1:p.Glu310Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109167",
      "coordinates": [
        {
          "allele": "A",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Glu296Lys",
        "hgvsWellDefined": "NP_001373232.1:p.Glu296Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109410",
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Glu262Lys",
        "hgvsWellDefined": "NP_001373233.1:p.Glu262Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "G",
          "start": 830,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.763-15G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:n.763-15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109845",
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.589G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Glu197Lys",
        "hgvsWellDefined": "NP_001373235.1:p.Glu197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}