{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367398617",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.1175G>C (p.Arg392Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2739097[alleleid]",
        "alleleId": 2739097,
        "preferredName": "NM_000162.5(GCK):c.1175G>C (p.Arg392Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2574162",
        "RCV": [
          "RCV003318527",
          "RCV003561294"
        ],
        "variationId": 2574162
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44185174C>G?assembly=hg19",
        "id": "chr7:g.44185174C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44145575C>G?assembly=hg38",
        "id": "chr7:g.44145575C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922269",
        "rs": 193922269
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 44145575,
          "referenceAllele": "C",
          "start": 44145574
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44145575C>G",
        "CM000669.2:g.44145575C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 44185174,
          "referenceAllele": "C",
          "start": 44185173
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44185174C>G",
        "CM000669.1:g.44185174C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 44151699,
          "referenceAllele": "C",
          "start": 44151698
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44151699C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48849,
          "referenceAllele": "G",
          "start": 48848
        }
      ],
      "hgvs": [
        "NG_008847.1:g.48849G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57596,
          "referenceAllele": "G",
          "start": 57595
        }
      ],
      "hgvs": [
        "NG_008847.2:g.57596G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*1173G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*1173G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1651,
          "referenceAllele": "G",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.*295G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:n.*295G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000683378.1:n.401G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000336642.9:c.209G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338009.5:p.Arg70Pro",
        "hgvsWellDefined": "ENSP00000338009.5:p.Arg70Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.1178G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Arg393Pro",
        "hgvsWellDefined": "ENSP00000223366.2:p.Arg393Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.1175G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Arg392Pro",
        "hgvsWellDefined": "ENSP00000384247.3:p.Arg392Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.1175G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.1175G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Arg392Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Arg392Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.1238G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:p.Arg413Pro",
        "hgvsWellDefined": "ENSP00000500264.1:p.Arg413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 187,
          "referenceAllele": "G",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000672743.1:n.187G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.1175G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:p.Arg392Pro",
        "hgvsWellDefined": "ENSP00000499852.1:p.Arg392Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000336642.8:c.227G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338009.4:p.Arg76Pro",
        "hgvsWellDefined": "ENSP00000338009.4:p.Arg76Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.1178G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Arg393Pro",
        "hgvsWellDefined": "ENSP00000223366.2:p.Arg393Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.1172G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:p.Arg391Pro",
        "hgvsWellDefined": "ENSP00000379142.3:p.Arg391Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.1175G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Arg392Pro",
        "hgvsWellDefined": "ENSP00000384247.3:p.Arg392Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.1124G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:p.Arg375Pro",
        "hgvsWellDefined": "ENSP00000402840.1:p.Arg375Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "G",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000459642.1:n.555G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "G",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.1172G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:p.Arg391Pro",
        "hgvsWellDefined": "ENSP00000482149.1:p.Arg391Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579982028",
      "coordinates": [
        {
          "allele": "C",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.1175G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Arg392Pro",
        "hgvsWellDefined": "NP_000153.1:p.Arg392Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830122253",
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.1178G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Arg393Pro",
        "hgvsWellDefined": "NP_277042.1:p.Arg393Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830123904",
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.1172G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Arg391Pro",
        "hgvsWellDefined": "NP_277043.1:p.Arg391Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579982028",
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.1175G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Arg392Pro",
        "hgvsWellDefined": "NP_000153.1:p.Arg392Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827936974",
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.1175G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:p.Arg392Pro",
        "hgvsWellDefined": "NP_001341729.1:p.Arg392Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937159",
      "coordinates": [
        {
          "allele": "C",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354801.1:c.164G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341730.1:p.Arg55Pro",
        "hgvsWellDefined": "NP_001341730.1:p.Arg55Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522690"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937286",
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354802.1:c.35G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341731.1:p.Arg12Pro",
        "hgvsWellDefined": "NP_001341731.1:p.Arg12Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741868040",
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354803.1:c.209G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341732.1:p.Arg70Pro",
        "hgvsWellDefined": "NP_001341732.1:p.Arg70Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830122253",
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.1178G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Arg393Pro",
        "hgvsWellDefined": "NP_277042.1:p.Arg393Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830123904",
      "coordinates": [
        {
          "allele": "C",
          "end": 1464,
          "referenceAllele": "G",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.1172G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Arg391Pro",
        "hgvsWellDefined": "NP_277043.1:p.Arg391Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "XM_024446707.1:c.35G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302475.1:p.Arg12Pro",
        "hgvsWellDefined": "XP_024302475.1:p.Arg12Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579982028",
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.1175G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Arg392Pro",
        "hgvsWellDefined": "NP_000153.1:p.Arg392Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.1175G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.1175G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Arg392Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Arg392Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830122253",
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.1178G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Arg393Pro",
        "hgvsWellDefined": "NP_277042.1:p.Arg393Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830123904",
      "coordinates": [
        {
          "allele": "C",
          "end": 1464,
          "referenceAllele": "G",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.1172G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Arg391Pro",
        "hgvsWellDefined": "NP_277043.1:p.Arg391Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741868040",
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354803.2:c.209G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341732.1:p.Arg70Pro",
        "hgvsWellDefined": "NP_001341732.1:p.Arg70Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720578"
    }
  ],
  "type": "nucleotide"
}