{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6289052",
  "communityStandardTitle": [
    "NM_001371904.1(APOA5):c.553G>A (p.Gly185Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=686256",
        "active": true,
        "id": "COSM686256"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-116661392-C-T",
        "id": "11-116661392-C-T",
        "variant": "11:116661392 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.116661392C>T?assembly=hg19",
        "id": "chr11:g.116661392C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.116790676C>T?assembly=hg38",
        "id": "chr11:g.116790676C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2075291",
        "rs": 2075291
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-116661392-C-T?dataset=gnomad_r2_1",
        "id": "11-116661392-C-T",
        "variant": "11:116661392 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-116790676-C-T?dataset=gnomad_r3",
        "id": "11-116790676-C-T",
        "variant": "11:116790676 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-116790676-C-T?dataset=gnomad_r4",
        "id": "11-116790676-C-T",
        "variant": "11:116790676 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 116790676,
          "referenceAllele": "C",
          "start": 116790675
        }
      ],
      "hgvs": [
        "NC_000011.10:g.116790676C>T",
        "CM000673.2:g.116790676C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 116661392,
          "referenceAllele": "C",
          "start": 116661391
        }
      ],
      "hgvs": [
        "NC_000011.9:g.116661392C>T",
        "CM000673.1:g.116661392C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 116166602,
          "referenceAllele": "C",
          "start": 116166601
        }
      ],
      "hgvs": [
        "NC_000011.8:g.116166602C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6745,
          "referenceAllele": "G",
          "start": 6744
        }
      ],
      "hgvs": [
        "NG_015894.1:g.6745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6745,
          "referenceAllele": "G",
          "start": 6744
        }
      ],
      "hgvs": [
        "NG_015894.2:g.6745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000227665.9:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227665.4:p.Gly185Ser",
        "hgvsWellDefined": "ENSP00000227665.4:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740731",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227665.9:c.553G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371904.1:c.553G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227665.4:p.Gly185Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001358833.1:p.Gly185Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000433069.2:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399701.2:p.Gly185Ser",
        "hgvsWellDefined": "ENSP00000399701.2:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000673688.1:c.637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501141.1:p.Gly213Ser",
        "hgvsWellDefined": "ENSP00000501141.1:p.Gly213Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000227665.8:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227665.4:p.Gly185Ser",
        "hgvsWellDefined": "ENSP00000227665.4:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000542499.5:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445002.1:p.Gly185Ser",
        "hgvsWellDefined": "ENSP00000445002.1:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_001166598.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160070.1:p.Gly185Ser",
        "hgvsWellDefined": "NP_001160070.1:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077690394",
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_052968.4:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_443200.2:p.Gly185Ser",
        "hgvsWellDefined": "NP_443200.2:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_001166598.2:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160070.1:p.Gly185Ser",
        "hgvsWellDefined": "NP_001160070.1:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_001371904.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358833.1:p.Gly185Ser",
        "hgvsWellDefined": "NP_001358833.1:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693054",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227665.9:c.553G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371904.1:c.553G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227665.4:p.Gly185Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001358833.1:p.Gly185Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077690394",
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_052968.5:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_443200.2:p.Gly185Ser",
        "hgvsWellDefined": "NP_443200.2:p.Gly185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699427"
    }
  ],
  "type": "nucleotide"
}