{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375375142",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.153A>T (p.Glu51Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135802645T>A?assembly=hg19",
        "id": "chr9:g.135802645T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132927258T>A?assembly=hg38",
        "id": "chr9:g.132927258T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 132927258,
          "referenceAllele": "T",
          "start": 132927257
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132927258T>A",
        "CM000671.2:g.132927258T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 135802645,
          "referenceAllele": "T",
          "start": 135802644
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135802645T>A",
        "CM000671.1:g.135802645T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 134792466,
          "referenceAllele": "T",
          "start": 134792465
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134792466T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22376,
          "referenceAllele": "A",
          "start": 22375
        }
      ],
      "hgvs": [
        "NG_012386.1:g.22376A>T",
        "LRG_486:g.22376A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "A",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496126.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495533.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000494743.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495598.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496398.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "A",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495546.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "endIntronDirection": "-",
          "endIntronOffset": 1518,
          "referenceAllele": "A",
          "start": 125,
          "startIntronDirection": "-",
          "startIntronOffset": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.-153-1519A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:n.-153-1519A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "A",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495428.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000493639.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "A",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495830.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "A",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496066.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000298552.3:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.153A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.153A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Glu51Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Glu51Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.6:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000386093.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "A",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.6:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496126.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.3:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495533.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642344.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494847.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000494847.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "A",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000493773.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496772.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642646.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496292.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496292.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642745.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493963.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000493963.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 1509,
          "referenceAllele": "A",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.106+1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.106+1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "A",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642854.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494639.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000494639.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496691.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496398.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "A",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000494685.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "endIntronDirection": "-",
          "endIntronOffset": 1518,
          "referenceAllele": "A",
          "start": 125,
          "startIntronDirection": "-",
          "startIntronOffset": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.1:c.-153-1519A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.1:n.-153-1519A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495158.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "A",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000494682.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 1509,
          "referenceAllele": "A",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.106+1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.106+1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644997.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495654.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495654.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000493639.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645150.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494365.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000494365.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "referenceAllele": "A",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.356A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645904.1:n.370A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "endIntronDirection": "+",
          "endIntronOffset": 1509,
          "referenceAllele": "A",
          "start": 340,
          "startIntronDirection": "+",
          "startIntronOffset": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.106+1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.106+1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "A",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495830.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496263.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "A",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000496066.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "A",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000494502.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647462.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495821.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000495821.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "A",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.381A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "A",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000298552.3:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.5:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000386093.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000394524.2:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "A",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.5:n.310A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.2:n.471A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "A",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.5:n.349A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Glu51Asp",
        "hgvsWellDefined": "ENSP00000444017.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262176",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.153A>T",
        "LRG_486t1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Glu51Asp",
        "hgvsWellDefined": "NP_000359.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825916961",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Glu51Asp",
        "hgvsWellDefined": "NP_001155898.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987285",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Glu51Asp",
        "hgvsWellDefined": "NP_001155899.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Glu51Asp",
        "hgvsWellDefined": "XP_005272268.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Glu51Asp",
        "hgvsWellDefined": "XP_006717334.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717272.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717335.1:p.Glu51Asp",
        "hgvsWellDefined": "XP_006717335.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "A",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Glu51Asp",
        "hgvsWellDefined": "XP_011517281.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "endIntronDirection": "+",
          "endIntronOffset": 1509,
          "referenceAllele": "A",
          "start": 340,
          "startIntronDirection": "+",
          "startIntronOffset": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.-154+1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:n.-154+1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "A",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Glu51Asp",
        "hgvsWellDefined": "XP_011517281.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Glu51Asp",
        "hgvsWellDefined": "XP_016870585.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "A",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Glu51Asp",
        "hgvsWellDefined": "XP_016870586.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Glu51Asp",
        "hgvsWellDefined": "XP_016870587.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 1509,
          "referenceAllele": "A",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.-154+1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:n.-154+1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "endIntronDirection": "+",
          "endIntronOffset": 1509,
          "referenceAllele": "A",
          "start": 583,
          "startIntronDirection": "+",
          "startIntronOffset": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.-154+1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:n.-154+1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262176",
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Glu51Asp",
        "hgvsWellDefined": "NP_000359.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.153A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.153A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Glu51Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Glu51Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825916961",
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Glu51Asp",
        "hgvsWellDefined": "NP_001155898.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987285",
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.153A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Glu51Asp",
        "hgvsWellDefined": "NP_001155899.1:p.Glu51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 1509,
          "referenceAllele": "A",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.-154+1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:n.-154+1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}