{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124475",
  "communityStandardTitle": [
    "NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4690794",
        "active": true,
        "id": "COSM4690794"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29981[alleleid]",
        "alleleId": 29981,
        "preferredName": "NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14942",
        "RCV": [
          "RCV000517471",
          "RCV002221999",
          "RCV000016080"
        ],
        "variationId": 14942
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121426644C>T?assembly=hg19",
        "id": "chr12:g.121426644C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.120988841C>T?assembly=hg38",
        "id": "chr12:g.120988841C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853243",
        "rs": 137853243
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-121426644-C-T?dataset=gnomad_r2_1",
        "id": "12-121426644-C-T",
        "variant": "12:121426644 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-120988841-C-T?dataset=gnomad_r4",
        "id": "12-120988841-C-T",
        "variant": "12:120988841 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 120988841,
          "referenceAllele": "C",
          "start": 120988840
        }
      ],
      "hgvs": [
        "NC_000012.12:g.120988841C>T",
        "CM000674.2:g.120988841C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 121426644,
          "referenceAllele": "C",
          "start": 121426643
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121426644C>T",
        "CM000674.1:g.121426644C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 119911027,
          "referenceAllele": "C",
          "start": 119911026
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119911027C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15096,
          "referenceAllele": "C",
          "start": 15095
        }
      ],
      "hgvs": [
        "NG_011731.2:g.15096C>T",
        "LRG_522:g.15096C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001934"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.6:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453965.2:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000453965.2:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.11:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.5:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000257555.5:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.335C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.335C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Pro112Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Pro112Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.10:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.4:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000257555.4:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000400024.6:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476181.1:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000476181.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000402929.5:n.470C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42,
          "endIntronDirection": "-",
          "endIntronOffset": 8649,
          "referenceAllele": "C",
          "start": 42,
          "startIntronDirection": "-",
          "startIntronOffset": 8650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000535955.5:n.43-8650C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 8649,
          "referenceAllele": "C",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 8650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538626.2:n.191-8650C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538646.5:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443964.1:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000443964.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 4678,
          "referenceAllele": "C",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 4679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000540108.1:c.327-4679C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445445.1:n.327-4679C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541395.5:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443112.1:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000443112.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541924.5:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440361.1:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000440361.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000543427.5:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439721.2:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000439721.2:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544413.2:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438804.1:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000438804.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 7775,
          "referenceAllele": "C",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 7776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544574.5:c.73-7776C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438565.1:n.73-7776C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.5:c.478C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 7420,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 7421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000615446.4:c.-257-7421C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483994.1:n.-257-7421C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000617366.4:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481967.1:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000481967.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124477",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.5:c.335C>T",
        "LRG_522t1:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Pro112Leu",
        "hgvsWellDefined": "NP_000536.5:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124477",
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.6:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Pro112Leu",
        "hgvsWellDefined": "NP_000536.5:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.1:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.1:p.Pro112Leu",
        "hgvsWellDefined": "NP_001293108.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_005253931.2:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253988.1:p.Pro112Leu",
        "hgvsWellDefined": "XP_005253988.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_024449168.1:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304936.1:p.Pro112Leu",
        "hgvsWellDefined": "XP_024304936.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206985",
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.8:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.6:p.Pro112Leu",
        "hgvsWellDefined": "NP_000536.6:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674886",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.335C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.335C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Pro112Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Pro112Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020376",
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.2:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.2:p.Pro112Leu",
        "hgvsWellDefined": "NP_001293108.2:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683864"
    }
  ],
  "type": "nucleotide"
}