{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4883349",
  "communityStandardTitle": [
    "NM_003235.5(TG):c.2200T>A (p.Ser734Thr)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-133900252-T-A",
        "id": "8-133900252-T-A",
        "variant": "8:133900252 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.133900252T>A?assembly=hg19",
        "id": "chr8:g.133900252T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.132888007T>A?assembly=hg38",
        "id": "chr8:g.132888007T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180223",
        "rs": 180223
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-133900252-T-A?dataset=gnomad_r2_1",
        "id": "8-133900252-T-A",
        "variant": "8:133900252 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-132888007-T-A?dataset=gnomad_r3",
        "id": "8-132888007-T-A",
        "variant": "8:132888007 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-132888007-T-A?dataset=gnomad_r4",
        "id": "8-132888007-T-A",
        "variant": "8:132888007 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 132888007,
          "referenceAllele": "T",
          "start": 132888006
        }
      ],
      "hgvs": [
        "NC_000008.11:g.132888007T>A",
        "CM000670.2:g.132888007T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 133900252,
          "referenceAllele": "T",
          "start": 133900251
        }
      ],
      "hgvs": [
        "NC_000008.10:g.133900252T>A",
        "CM000670.1:g.133900252T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 133969434,
          "referenceAllele": "T",
          "start": 133969433
        }
      ],
      "hgvs": [
        "NC_000008.9:g.133969434T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26048,
          "referenceAllele": "T",
          "start": 26047
        }
      ],
      "hgvs": [
        "NG_015832.1:g.26048T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002864"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2243,
          "referenceAllele": "T",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "ENST00000220616.9:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220616.4:p.Ser734Thr",
        "hgvsWellDefined": "ENSP00000220616.4:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220616.9:c.2200T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003235.5:c.2200T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220616.4:p.Ser734Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003226.4:p.Ser734Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2240,
          "referenceAllele": "T",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "ENST00000220616.8:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220616.4:p.Ser734Thr",
        "hgvsWellDefined": "ENSP00000220616.4:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074687308",
      "coordinates": [
        {
          "allele": "A",
          "end": 2241,
          "referenceAllele": "T",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "NM_003235.4:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003226.4:p.Ser734Thr",
        "hgvsWellDefined": "NP_003226.4:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_005251038.3:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251095.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_005251095.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2266,
          "referenceAllele": "T",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_005251040.3:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251097.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_005251097.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_005251042.3:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251099.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_005251099.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_005251043.3:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251100.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_005251100.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2264,
          "referenceAllele": "T",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_006716622.2:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716685.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_006716685.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_005251038.4:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251095.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_005251095.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_005251040.4:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251097.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_005251097.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_005251042.4:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251099.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_005251099.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_006716622.3:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716685.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_006716685.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_017013793.1:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869282.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_016869282.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_017013794.1:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869283.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_016869283.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_017013795.1:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869284.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_016869284.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_017013796.1:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869285.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_016869285.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2152,
          "referenceAllele": "T",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_017013797.1:c.1939T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869286.1:p.Ser647Thr",
        "hgvsWellDefined": "XP_016869286.1:p.Ser647Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_017013798.1:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869287.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_016869287.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_017013799.1:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869288.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_016869288.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "XM_017013800.1:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869289.1:p.Ser734Thr",
        "hgvsWellDefined": "XP_016869289.1:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074687308",
      "coordinates": [
        {
          "allele": "A",
          "end": 2243,
          "referenceAllele": "T",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011764",
      "geneNCBI_id": 7038,
      "geneSymbol": "TG",
      "hgvs": [
        "NM_003235.5:c.2200T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003226.4:p.Ser734Thr",
        "hgvsWellDefined": "NP_003226.4:p.Ser734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665941",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220616.9:c.2200T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003235.5:c.2200T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220616.4:p.Ser734Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003226.4:p.Ser734Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}