{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5858952",
  "communityStandardTitle": [
    "NM_000391.4(TPP1):c.437C>T (p.Thr146Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=640350[alleleid]",
        "alleleId": 640350,
        "preferredName": "NM_000391.4(TPP1):c.437C>T (p.Thr146Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644051",
        "RCV": [
          "RCV001869254",
          "RCV001104755",
          "RCV002501061"
        ],
        "variationId": 644051
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-6638603-G-A",
        "id": "11-6638603-G-A",
        "variant": "11:6638603 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6638603G>A?assembly=hg19",
        "id": "chr11:g.6638603G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6617372G>A?assembly=hg38",
        "id": "chr11:g.6617372G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748686068",
        "rs": 748686068
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6638603-G-A?dataset=gnomad_r2_1",
        "id": "11-6638603-G-A",
        "variant": "11:6638603 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6617372-G-A?dataset=gnomad_r4",
        "id": "11-6617372-G-A",
        "variant": "11:6617372 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6617372,
          "referenceAllele": "G",
          "start": 6617371
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6617372G>A",
        "CM000673.2:g.6617372G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6638603,
          "referenceAllele": "G",
          "start": 6638602
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6638603G>A",
        "CM000673.1:g.6638603G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6595179,
          "referenceAllele": "G",
          "start": 6595178
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6595179G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7090,
          "referenceAllele": "C",
          "start": 7089
        }
      ],
      "hgvs": [
        "NG_008653.1:g.7090C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001146"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000682424.1:c.323C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507321.1:p.Thr108Met",
        "hgvsWellDefined": "ENSP00000507321.1:p.Thr108Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.12:c.437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Thr146Met",
        "hgvsWellDefined": "ENSP00000299427.6:p.Thr146Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.437C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.437C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Thr146Met"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Thr146Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000428886.7:n.525C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000436873.7:c.241C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1449,
          "referenceAllele": "C",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524788.2:n.1449C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524903.2:n.1565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000528571.6:c.*177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434647.1:n.*177C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000528807.2:n.93C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000530040.2:n.466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.6:c.-293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:n.-293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000534644.6:n.438C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000642892.1:c.-240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494165.1:n.-240C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643439.1:c.*177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495849.1:n.*177C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643479.1:n.466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643516.1:c.324C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1729,
          "referenceAllele": "C",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644151.1:n.1729C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644218.1:c.437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493574.1:p.Thr146Met",
        "hgvsWellDefined": "ENSP00000493574.1:p.Thr146Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644683.1:c.437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494085.1:p.Thr146Met",
        "hgvsWellDefined": "ENSP00000494085.1:p.Thr146Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "endIntronDirection": "-",
          "endIntronOffset": 218,
          "referenceAllele": "C",
          "start": 242,
          "startIntronDirection": "-",
          "startIntronOffset": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644810.1:c.230-219C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495895.1:n.230-219C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644831.1:n.466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644933.1:c.-293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496133.1:n.-293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645020.1:n.1465C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645285.1:c.-293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495058.1:n.-293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645331.1:n.656C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645620.1:c.-235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493657.1:n.-235C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646777.1:n.466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647016.1:n.770C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647152.1:c.-293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495893.1:n.-293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647209.1:c.*306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495558.1:n.*306C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647346.1:n.1457C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.10:c.437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Thr146Met",
        "hgvsWellDefined": "ENSP00000299427.6:p.Thr146Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000428886.6:n.459C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000436873.6:c.437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398136.2:p.Thr146Met",
        "hgvsWellDefined": "ENSP00000398136.2:p.Thr146Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000528571.5:c.*177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434647.1:n.*177C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000530040.1:n.549C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.5:c.-293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:n.-293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000534644.5:n.422C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000611494.4:c.437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484546.1:p.Thr146Met",
        "hgvsWellDefined": "ENSP00000484546.1:p.Thr146Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964832",
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.3:c.437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Thr146Met",
        "hgvsWellDefined": "NP_000382.3:p.Thr146Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964832",
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.4:c.437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Thr146Met",
        "hgvsWellDefined": "NP_000382.3:p.Thr146Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.437C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.437C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Thr146Met"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Thr146Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}