{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343777442",
  "communityStandardTitle": [
    "NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=823020[alleleid]",
        "alleleId": 823020,
        "preferredName": "NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/843350",
        "RCV": [
          "RCV001045955"
        ],
        "variationId": 843350
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173883758C>T?assembly=hg19",
        "id": "chr1:g.173883758C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.173914620C>T?assembly=hg38",
        "id": "chr1:g.173914620C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1657909645",
        "rs": 1657909645
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 173914620,
          "referenceAllele": "C",
          "start": 173914619
        }
      ],
      "hgvs": [
        "NC_000001.11:g.173914620C>T",
        "CM000663.2:g.173914620C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 173883758,
          "referenceAllele": "C",
          "start": 173883757
        }
      ],
      "hgvs": [
        "NC_000001.10:g.173883758C>T",
        "CM000663.1:g.173883758C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 172150381,
          "referenceAllele": "C",
          "start": 172150380
        }
      ],
      "hgvs": [
        "NC_000001.9:g.172150381C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7759,
          "referenceAllele": "G",
          "start": 7758
        }
      ],
      "hgvs": [
        "NG_012462.1:g.7759G>A",
        "LRG_577:g.7759G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.4:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Ser114Asn",
        "hgvsWellDefined": "ENSP00000356671.3:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.341G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.341G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Ser114Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Ser114Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000367698.3:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356671.3:p.Ser114Asn",
        "hgvsWellDefined": "ENSP00000356671.3:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46,
          "referenceAllele": "G",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000487183.1:n.46G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000494024.1:n.567G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "ENST00000617423.4:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478688.1:p.Ser114Asn",
        "hgvsWellDefined": "ENSP00000478688.1:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825189404",
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.3:c.341G>A",
        "LRG_577t1:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Ser114Asn",
        "hgvsWellDefined": "NP_000479.1:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "XM_005245198.2:c.197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245255.1:p.Ser66Asn",
        "hgvsWellDefined": "XP_005245255.1:p.Ser66Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139742674",
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.1:c.197G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Ser66Asn",
        "hgvsWellDefined": "NP_001351981.1:p.Ser66Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825189404",
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_000488.4:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000479.1:p.Ser114Asn",
        "hgvsWellDefined": "NP_000479.1:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367698.4:c.341G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000488.4:c.341G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356671.3:p.Ser114Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000479.1:p.Ser114Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139742674",
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001365052.2:c.197G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351981.1:p.Ser66Asn",
        "hgvsWellDefined": "NP_001351981.1:p.Ser66Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829108982",
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386302.1:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373231.1:p.Ser114Asn",
        "hgvsWellDefined": "NP_001373231.1:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109124",
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386303.1:c.422G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373232.1:p.Ser141Asn",
        "hgvsWellDefined": "NP_001373232.1:p.Ser141Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109329",
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386304.1:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373233.1:p.Ser114Asn",
        "hgvsWellDefined": "NP_001373233.1:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109572",
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386305.1:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373234.1:p.Ser114Asn",
        "hgvsWellDefined": "NP_001373234.1:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829109798",
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000775",
      "geneNCBI_id": 462,
      "geneSymbol": "SERPINC1",
      "hgvs": [
        "NM_001386306.1:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373235.1:p.Ser114Asn",
        "hgvsWellDefined": "NP_001373235.1:p.Ser114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724492"
    }
  ],
  "type": "nucleotide"
}