{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2258515808",
  "communityStandardTitle": [
    "NM_000458.4(HNF1B):c.1325T= (p.Met442=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922482",
        "rs": 193922482
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37704931,
          "referenceAllele": "A",
          "start": 37704930
        }
      ],
      "hgvs": [
        "NC_000017.11:g.37704931A=",
        "CM000679.2:g.37704931A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 36064938,
          "referenceAllele": "A",
          "start": 36064937
        }
      ],
      "hgvs": [
        "NC_000017.10:g.36064938A=",
        "CM000679.1:g.36064938A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 33139051,
          "referenceAllele": "A",
          "start": 33139050
        }
      ],
      "hgvs": [
        "NC_000017.9:g.33139051A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45176,
          "referenceAllele": "T",
          "start": 45175
        }
      ],
      "hgvs": [
        "NG_013019.2:g.45176T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002666"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "T",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617811.5:c.1325T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480291.1:p.Met442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617811.5:c.1325T="
          },
          "RefSeq": {
            "hgvs": "NM_000458.4:c.1325T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480291.1:p.Met442="
          },
          "RefSeq": {
            "hgvs": "NP_000449.1:p.Met442="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1381,
          "referenceAllele": "T",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000613727.4:c.1247T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477524.1:p.Met416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "referenceAllele": "T",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000614313.4:c.1325T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482529.1:p.Met442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "T",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617272.4:c.*48T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478682.1:n.*48T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "T",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617811.4:c.1325T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480291.1:p.Met442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "T",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000621123.4:c.1247T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482711.1:p.Met416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084020609",
      "coordinates": [
        {
          "allele": "T",
          "end": 1519,
          "referenceAllele": "T",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_000458.3:c.1325T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000449.1:p.Met442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1441,
          "referenceAllele": "T",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001165923.3:c.1247T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159395.1:p.Met416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1441,
          "referenceAllele": "T",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001304286.1:c.1247T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291215.1:p.Met416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "T",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525160.1:c.1325T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523462.1:p.Met442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "T",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525161.1:c.1325T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523463.1:p.Met442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "T",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525164.1:c.1247T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523466.1:p.Met416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1469,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 1469,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "hgvs": [
        "XR_001752877.1:n.1469+116A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084020609",
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "T",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_000458.4:c.1325T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000449.1:p.Met442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662451",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617811.5:c.1325T="
          },
          "RefSeq": {
            "hgvs": "NM_000458.4:c.1325T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480291.1:p.Met442="
          },
          "RefSeq": {
            "hgvs": "NP_000449.1:p.Met442="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "T",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001165923.4:c.1247T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159395.1:p.Met416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "T",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001304286.2:c.1247T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291215.1:p.Met416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683637"
    }
  ],
  "type": "nucleotide"
}