{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008143",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.738-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58259[alleleid]",
        "alleleId": 58259,
        "preferredName": "NM_000368.5(TSC1):c.738-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49097",
        "RCV": [
          "RCV000042351",
          "RCV001221738"
        ],
        "variationId": 49097
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135787846T>C?assembly=hg19",
        "id": "chr9:g.135787846T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132912459T>C?assembly=hg38",
        "id": "chr9:g.132912459T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203440",
        "rs": 118203440
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132912459,
          "referenceAllele": "T",
          "start": 132912458
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132912459T>C",
        "CM000671.2:g.132912459T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 135787846,
          "referenceAllele": "T",
          "start": 135787845
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135787846T>C",
        "CM000671.1:g.135787846T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 134777667,
          "referenceAllele": "T",
          "start": 134777666
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134777667T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37175,
          "referenceAllele": "A",
          "start": 37174
        }
      ],
      "hgvs": [
        "NG_012386.1:g.37175A>G",
        "LRG_486:g.37175A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1046,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 843,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.585-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:n.585-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 933,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.375-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:n.375-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 961,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.585-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:n.585-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1071,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 965,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.738-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.738-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:n.738-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:n.738-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.6:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10,
          "referenceAllele": "A",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.6:n.10A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1035,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642344.1:c.*479-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494847.1:n.*479-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 961,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 957,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1259,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642646.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496292.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642745.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493963.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*508-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*508-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1196,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1196,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642854.1:c.*523-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494639.1:n.*523-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.585-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:n.585-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 843,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.1:c.585-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.1:n.585-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 953,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 953,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.1:c.375-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.1:n.375-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1078,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 860,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*508-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*508-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "A",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644319.1:n.463A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1002,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644997.1:c.*395-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495654.1:n.*395-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.1:c.585-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.1:n.585-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768186"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 942,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645150.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494365.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 940,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 940,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.941-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 867,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*508-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*508-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 942,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 875,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.664-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.664-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647462.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495821.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 965,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.966-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 959,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.5:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 820,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 933,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.5:n.934-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.585-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:n.585-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.738-2A>G",
        "LRG_486t1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 818,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.585-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:n.585-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1016,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717272.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717335.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1066,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1066,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 867,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.375-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:n.375-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 965,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1430,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1430,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1401,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1401,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1016,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1080,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1080,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.375-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:n.375-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1110,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1110,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.375-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:n.375-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.738-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.738-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:n.738-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:n.738-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 954,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.738-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:n.738-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.585-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:n.585-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 850,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.375-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:n.375-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}