{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214665",
  "communityStandardTitle": [
    "NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29971[alleleid]",
        "alleleId": 29971,
        "preferredName": "NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14932",
        "RCV": [
          "RCV000016069",
          "RCV000030492",
          "RCV002514104"
        ],
        "variationId": 14932
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121437409C>G?assembly=hg19",
        "id": "chr12:g.121437409C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.120999606C>G?assembly=hg38",
        "id": "chr12:g.120999606C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853239",
        "rs": 137853239
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-121437409-C-G?dataset=gnomad_r2_1",
        "id": "12-121437409-C-G",
        "variant": "12:121437409 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-120999606-C-G?dataset=gnomad_r3",
        "id": "12-120999606-C-G",
        "variant": "12:120999606 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-120999606-C-G?dataset=gnomad_r4",
        "id": "12-120999606-C-G",
        "variant": "12:120999606 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 120999606,
          "referenceAllele": "C",
          "start": 120999605
        }
      ],
      "hgvs": [
        "NC_000012.12:g.120999606C>G",
        "CM000674.2:g.120999606C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 121437409,
          "referenceAllele": "C",
          "start": 121437408
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121437409C>G",
        "CM000674.1:g.121437409C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 119921792,
          "referenceAllele": "C",
          "start": 119921791
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119921792C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25861,
          "referenceAllele": "C",
          "start": 25860
        }
      ],
      "hgvs": [
        "NG_011731.2:g.25861C>G",
        "LRG_522:g.25861C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001934"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.6:c.*494C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453965.2:n.*494C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.11:c.1747C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.5:p.Arg583Gly",
        "hgvsWellDefined": "ENSP00000257555.5:p.Arg583Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.1747C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.1747C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Arg583Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Arg583Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.10:c.1747C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.4:p.Arg583Gly",
        "hgvsWellDefined": "ENSP00000257555.4:p.Arg583Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570,
          "referenceAllele": "C",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000540108.1:c.*1187C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445445.1:n.*1187C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "C",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541395.5:c.1840C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443112.1:p.Arg614Gly",
        "hgvsWellDefined": "ENSP00000443112.1:p.Arg614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000543427.5:c.1210C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439721.2:p.Arg404Gly",
        "hgvsWellDefined": "ENSP00000439721.2:p.Arg404Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544413.2:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438804.1:p.Arg590Gly",
        "hgvsWellDefined": "ENSP00000438804.1:p.Arg590Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.5:c.1564C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000615446.4:c.535C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483994.1:p.Arg179Gly",
        "hgvsWellDefined": "ENSP00000483994.1:p.Arg179Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000617366.4:c.*156C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481967.1:n.*156C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214667",
      "coordinates": [
        {
          "allele": "G",
          "end": 1770,
          "referenceAllele": "C",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.5:c.1747C>G",
        "LRG_522t1:c.1747C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Arg583Gly",
        "hgvsWellDefined": "NP_000536.5:p.Arg583Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214667",
      "coordinates": [
        {
          "allele": "G",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.6:c.1747C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Arg583Gly",
        "hgvsWellDefined": "NP_000536.5:p.Arg583Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1969,
          "referenceAllele": "C",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.1:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.1:p.Arg590Gly",
        "hgvsWellDefined": "NP_001293108.1:p.Arg590Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2822,
          "referenceAllele": "C",
          "start": 2821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_005253931.2:c.1840C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253988.1:p.Arg614Gly",
        "hgvsWellDefined": "XP_005253988.1:p.Arg614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_024449168.1:c.1840C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304936.1:p.Arg614Gly",
        "hgvsWellDefined": "XP_024304936.1:p.Arg614Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825207701",
      "coordinates": [
        {
          "allele": "G",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.8:c.1747C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.6:p.Arg583Gly",
        "hgvsWellDefined": "NP_000536.6:p.Arg583Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674886",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.1747C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.1747C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Arg583Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Arg583Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020466",
      "coordinates": [
        {
          "allele": "G",
          "end": 1994,
          "referenceAllele": "C",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.2:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.2:p.Arg590Gly",
        "hgvsWellDefined": "NP_001293108.2:p.Arg590Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683864"
    }
  ],
  "type": "nucleotide"
}