{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA70621546",
  "communityStandardTitle": [
    "NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790350[alleleid]",
        "alleleId": 790350,
        "preferredName": "NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801945",
        "RCV": [
          "RCV000987131"
        ],
        "variationId": 801945
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.15685919T>G?assembly=hg19",
        "id": "chr3:g.15685919T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.15644412T>G?assembly=hg38",
        "id": "chr3:g.15644412T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/955385869",
        "rs": 955385869
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 15644412,
          "referenceAllele": "T",
          "start": 15644411
        }
      ],
      "hgvs": [
        "NC_000003.12:g.15644412T>G",
        "CM000665.2:g.15644412T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 15685919,
          "referenceAllele": "T",
          "start": 15685918
        }
      ],
      "hgvs": [
        "NC_000003.11:g.15685919T>G",
        "CM000665.1:g.15685919T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 15660923,
          "referenceAllele": "T",
          "start": 15660922
        }
      ],
      "hgvs": [
        "NC_000003.10:g.15660923T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47665,
          "referenceAllele": "T",
          "start": 47664
        }
      ],
      "hgvs": [
        "NG_008019.1:g.47665T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48061,
          "referenceAllele": "T",
          "start": 48060
        }
      ],
      "hgvs": [
        "NG_008019.2:g.48061T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706077"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "T",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000436193.6:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394277.2:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000394277.2:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2355,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000671928.2:c.399+2355T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500069.2:n.399+2355T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672892.2:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499944.2:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000499944.2:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 947,
          "referenceAllele": "T",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000303498.10:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306477.6:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000306477.6:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000427382.2:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397113.2:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000397113.2:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000437172.6:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400995.2:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000400995.2:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000449107.7:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388212.2:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000388212.2:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000643237.3:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495254.2:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000495254.2:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.496T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.496T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Cys166Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Cys166Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 807,
          "referenceAllele": "T",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000646371.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495866.1:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000495866.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 2355,
          "referenceAllele": "T",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000671928.1:c.165+2355T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500069.1:n.165+2355T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672065.1:c.556T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500403.1:p.Cys186Gly",
        "hgvsWellDefined": "ENSP00000500403.1:p.Cys186Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "T",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672112.1:c.562T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500193.1:p.Cys188Gly",
        "hgvsWellDefined": "ENSP00000500193.1:p.Cys188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2355,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672141.1:c.399+2355T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500210.1:n.399+2355T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "referenceAllele": "T",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672427.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500131.1:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000500131.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 529,
          "endIntronDirection": "+",
          "endIntronOffset": 2355,
          "referenceAllele": "T",
          "start": 529,
          "startIntronDirection": "+",
          "startIntronOffset": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672760.1:c.399+2355T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500530.1:n.399+2355T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672892.1:c.274T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499944.1:p.Cys92Gly",
        "hgvsWellDefined": "ENSP00000499944.1:p.Cys92Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "endIntronDirection": "+",
          "endIntronOffset": 2355,
          "referenceAllele": "T",
          "start": 532,
          "startIntronDirection": "+",
          "startIntronOffset": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000673467.1:c.399+2355T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500288.1:n.399+2355T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2355,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000673620.1:c.399+2355T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500325.1:n.399+2355T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 665,
          "referenceAllele": "T",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000303498.9:c.556T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306477.5:p.Cys186Gly",
        "hgvsWellDefined": "ENSP00000306477.5:p.Cys186Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "T",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000383778.5:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373288.4:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000373288.4:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "T",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000436193.5:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394277.1:p.Cys166Gly",
        "hgvsWellDefined": "ENSP00000394277.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000437172.5:c.562T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400995.1:p.Cys188Gly",
        "hgvsWellDefined": "ENSP00000400995.1:p.Cys188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "T",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000449107.5:c.562T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388212.1:p.Cys188Gly",
        "hgvsWellDefined": "ENSP00000388212.1:p.Cys188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580102829",
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.3:c.556T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000051.1:p.Cys186Gly",
        "hgvsWellDefined": "NP_000051.1:p.Cys186Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "T",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.1:c.562T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.1:p.Cys188Gly",
        "hgvsWellDefined": "NP_001268652.1:p.Cys188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "T",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.1:c.562T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.1:p.Cys188Gly",
        "hgvsWellDefined": "NP_001268653.1:p.Cys188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591672",
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "T",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268654.1:p.Cys166Gly",
        "hgvsWellDefined": "NP_001268654.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "T",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_006713314.2:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713377.1:p.Cys166Gly",
        "hgvsWellDefined": "XP_006713377.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532343.1:p.Cys166Gly",
        "hgvsWellDefined": "XP_011532343.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580102829",
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.4:c.556T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000051.1:p.Cys186Gly",
        "hgvsWellDefined": "NP_000051.1:p.Cys186Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "T",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.2:c.562T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.1:p.Cys188Gly",
        "hgvsWellDefined": "NP_001268652.1:p.Cys188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "T",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.2:c.562T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.1:p.Cys188Gly",
        "hgvsWellDefined": "NP_001268653.1:p.Cys188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591672",
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "T",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.2:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268654.1:p.Cys166Gly",
        "hgvsWellDefined": "NP_001268654.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827195742",
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "T",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001323582.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310511.1:p.Cys166Gly",
        "hgvsWellDefined": "NP_001310511.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.2:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532343.1:p.Cys166Gly",
        "hgvsWellDefined": "XP_011532343.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "referenceAllele": "T",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_017007088.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862577.1:p.Cys166Gly",
        "hgvsWellDefined": "XP_016862577.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 889,
          "referenceAllele": "T",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_024453724.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309492.1:p.Cys166Gly",
        "hgvsWellDefined": "XP_024309492.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826589699",
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "T",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.3:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.2:p.Cys166Gly",
        "hgvsWellDefined": "NP_001268652.2:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826590654",
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "T",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.3:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.2:p.Cys166Gly",
        "hgvsWellDefined": "NP_001268653.2:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445881",
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370658.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357587.1:p.Cys166Gly",
        "hgvsWellDefined": "NP_001357587.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.496T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.496T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Cys166Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Cys166Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916048632",
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.496T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357681.1:p.Cys166Gly",
        "hgvsWellDefined": "NP_001357681.1:p.Cys166Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2355,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370753.1:c.399+2355T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:n.399+2355T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2920,
          "referenceAllele": "T",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.2:c.*2274T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.2:n.*2274T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}