{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386966282",
  "communityStandardTitle": [
    "NM_000545.8(HNF1A):c.803T>G (p.Phe268Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=21482",
        "active": true,
        "id": "COSM21482"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121432056T>G?assembly=hg19",
        "id": "chr12:g.121432056T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.120994253T>G?assembly=hg38",
        "id": "chr12:g.120994253T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922605",
        "rs": 193922605
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 120994253,
          "referenceAllele": "T",
          "start": 120994252
        }
      ],
      "hgvs": [
        "NC_000012.12:g.120994253T>G",
        "CM000674.2:g.120994253T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 121432056,
          "referenceAllele": "T",
          "start": 121432055
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121432056T>G",
        "CM000674.1:g.121432056T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 119916439,
          "referenceAllele": "T",
          "start": 119916438
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119916439T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20508,
          "referenceAllele": "T",
          "start": 20507
        }
      ],
      "hgvs": [
        "NG_011731.2:g.20508T>G",
        "LRG_522:g.20508T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001934"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "endIntronDirection": "+",
          "endIntronOffset": 53,
          "referenceAllele": "T",
          "start": 893,
          "startIntronDirection": "+",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.6:c.750+53T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453965.2:n.750+53T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.11:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.5:p.Phe268Cys",
        "hgvsWellDefined": "ENSP00000257555.5:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.803T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.803T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Phe268Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Phe268Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.10:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.4:p.Phe268Cys",
        "hgvsWellDefined": "ENSP00000257555.4:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "referenceAllele": "T",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000400024.6:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476181.1:p.Phe268Cys",
        "hgvsWellDefined": "ENSP00000476181.1:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "T",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000402929.5:n.938T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42,
          "endIntronDirection": "-",
          "endIntronOffset": 3237,
          "referenceAllele": "T",
          "start": 42,
          "startIntronDirection": "-",
          "startIntronOffset": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000535955.5:n.43-3238T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 3237,
          "referenceAllele": "T",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538626.2:n.191-3238T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "T",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538646.5:c.616T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443964.1:p.Leu206Val",
        "hgvsWellDefined": "ENSP00000443964.1:p.Leu206Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "T",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000540108.1:c.*243T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445445.1:n.*243T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "T",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541395.5:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443112.1:p.Phe268Cys",
        "hgvsWellDefined": "ENSP00000443112.1:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 831,
          "endIntronDirection": "+",
          "endIntronOffset": 547,
          "referenceAllele": "T",
          "start": 831,
          "startIntronDirection": "+",
          "startIntronOffset": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541924.5:c.713+547T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440361.1:n.713+547T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "T",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000543427.5:c.633+627T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439721.2:n.633+627T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544413.2:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438804.1:p.Phe268Cys",
        "hgvsWellDefined": "ENSP00000438804.1:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 2363,
          "referenceAllele": "T",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544574.5:c.73-2364T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438565.1:n.73-2364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "endIntronDirection": "+",
          "endIntronOffset": 53,
          "referenceAllele": "T",
          "start": 893,
          "startIntronDirection": "+",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.5:c.893+53T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 2008,
          "referenceAllele": "T",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000615446.4:c.-257-2009T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483994.1:n.-257-2009T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 674,
          "referenceAllele": "T",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000617366.4:c.586+674T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481967.1:n.586+674T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "T",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.5:c.803T>G",
        "LRG_522t1:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Phe268Cys",
        "hgvsWellDefined": "NP_000536.5:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "referenceAllele": "T",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.6:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Phe268Cys",
        "hgvsWellDefined": "NP_000536.5:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "referenceAllele": "T",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.1:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.1:p.Phe268Cys",
        "hgvsWellDefined": "NP_001293108.1:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1785,
          "referenceAllele": "T",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_005253931.2:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253988.1:p.Phe268Cys",
        "hgvsWellDefined": "XP_005253988.1:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "referenceAllele": "T",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_024449168.1:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304936.1:p.Phe268Cys",
        "hgvsWellDefined": "XP_024304936.1:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079331102",
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.8:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.6:p.Phe268Cys",
        "hgvsWellDefined": "NP_000536.6:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674886",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.803T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.803T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Phe268Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Phe268Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.2:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.2:p.Phe268Cys",
        "hgvsWellDefined": "NP_001293108.2:p.Phe268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683864"
    }
  ],
  "type": "nucleotide"
}