{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343776778",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2898376[alleleid]",
        "alleleId": 2898376,
        "preferredName": "NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734043",
        "RCV": [
          "RCV003527190"
        ],
        "variationId": 2734043
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173881109A>T?assembly=hg19",
        "id": "chr1:g.173881109A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173911971A>T?assembly=hg38",
        "id": "chr1:g.173911971A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2526582277",
        "rs": 2526582277
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 173911971,
          "referenceAllele": "A",
          "start": 173911970
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173911971A>T",
        "CM000663.2:g.173911971A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 173881109,
          "referenceAllele": "A",
          "start": 173881108
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173881109A>T",
        "CM000663.1:g.173881109A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 172147732,
          "referenceAllele": "A",
          "start": 172147731
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172147732A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10408,
          "referenceAllele": "T",
          "start": 10407
        }
      ],
      "hgvs": [
        "NG_012462.1:g.10408T>A",
        "LRG_577:g.10408T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "T",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.452T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Ile151Asn",
        "hgvsWellDefined": "ENSP00000356671.3:p.Ile151Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.452T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.452T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Ile151Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Ile151Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "referenceAllele": "T",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.452T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Ile151Asn",
        "hgvsWellDefined": "ENSP00000356671.3:p.Ile151Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "referenceAllele": "T",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000487183.1:n.157T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "referenceAllele": "T",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.452T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Ile151Asn",
        "hgvsWellDefined": "ENSP00000478688.1:p.Ile151Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825189439",
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "referenceAllele": "T",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.452T>A",
        "LRG_577t1:c.452T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Ile151Asn",
        "hgvsWellDefined": "NP_000479.1:p.Ile151Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 703,
          "referenceAllele": "T",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.308T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Ile103Asn",
        "hgvsWellDefined": "XP_005245255.1:p.Ile103Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164422",
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "T",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.308T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Ile103Asn",
        "hgvsWellDefined": "NP_001351981.1:p.Ile103Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825189439",
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "T",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.452T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Ile151Asn",
        "hgvsWellDefined": "NP_000479.1:p.Ile151Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.452T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.452T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Ile151Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Ile151Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828164422",
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "T",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.308T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Ile103Asn",
        "hgvsWellDefined": "NP_001351981.1:p.Ile103Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109007",
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "T",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.452T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Ile151Asn",
        "hgvsWellDefined": "NP_001373231.1:p.Ile151Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741878184",
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "T",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.533T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Ile178Asn",
        "hgvsWellDefined": "NP_001373232.1:p.Ile178Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109353",
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "T",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.452T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Ile151Asn",
        "hgvsWellDefined": "NP_001373233.1:p.Ile151Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109596",
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "T",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.452T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Ile151Asn",
        "hgvsWellDefined": "NP_001373234.1:p.Ile151Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "endIntronDirection": "-",
          "endIntronOffset": 1079,
          "referenceAllele": "T",
          "start": 476,
          "startIntronDirection": "-",
          "startIntronOffset": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.409-1080T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:n.409-1080T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}