{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375369099",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=637902[alleleid]",
        "alleleId": 637902,
        "preferredName": "NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/652627",
        "RCV": [
          "RCV000808212",
          "RCV002370159",
          "RCV002291701",
          "RCV002487737"
        ],
        "variationId": 652627
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135787698C>G?assembly=hg19",
        "id": "chr9:g.135787698C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132912311C>G?assembly=hg38",
        "id": "chr9:g.132912311C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1415705359",
        "rs": 1415705359
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135787698-C-G?dataset=gnomad_r2_1",
        "id": "9-135787698-C-G",
        "variant": "9:135787698 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132912311-C-G?dataset=gnomad_r3",
        "id": "9-132912311-C-G",
        "variant": "9:132912311 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132912311-C-G?dataset=gnomad_r4",
        "id": "9-132912311-C-G",
        "variant": "9:132912311 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132912311,
          "referenceAllele": "C",
          "start": 132912310
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132912311C>G",
        "CM000671.2:g.132912311C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135787698,
          "referenceAllele": "C",
          "start": 135787697
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135787698C>G",
        "CM000671.1:g.135787698C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 134777519,
          "referenceAllele": "C",
          "start": 134777518
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134777519C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37323,
          "referenceAllele": "G",
          "start": 37322
        }
      ],
      "hgvs": [
        "NG_012386.1:g.37323G>C",
        "LRG_486:g.37323G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000496126.2:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000495533.2:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000494743.2:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000495598.2:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.731G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Ser244Thr",
        "hgvsWellDefined": "ENSP00000496398.2:p.Ser244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000495546.2:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.521G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Ser174Thr",
        "hgvsWellDefined": "ENSP00000494916.2:p.Ser174Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000495428.2:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.731G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Ser244Thr",
        "hgvsWellDefined": "ENSP00000493639.2:p.Ser244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000495830.2:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000496066.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000298552.3:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.884G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.884G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Ser295Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Ser295Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.6:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000386093.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.6:n.158G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642344.1:c.*625G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494847.1:n.*625G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000493773.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000496772.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1406,
          "referenceAllele": "G",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642646.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496292.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000496292.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642745.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493963.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000493963.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*654G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*654G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642854.1:c.*669G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494639.1:n.*669G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.731G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Ser244Thr",
        "hgvsWellDefined": "ENSP00000496691.1:p.Ser244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.1:c.731G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.1:p.Ser244Thr",
        "hgvsWellDefined": "ENSP00000496398.1:p.Ser244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "G",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000494685.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.1:c.521G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.1:p.Ser174Thr",
        "hgvsWellDefined": "ENSP00000494916.1:p.Ser174Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000495158.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1225,
          "referenceAllele": "G",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000494682.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*654G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*654G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644319.1:n.611G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644997.1:c.*541G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495654.1:n.*541G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.1:c.731G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.1:p.Ser244Thr",
        "hgvsWellDefined": "ENSP00000493639.1:p.Ser244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645150.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494365.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000494365.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "referenceAllele": "G",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.1087G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*654G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*654G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000496263.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1022,
          "referenceAllele": "G",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000496066.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.*123G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.*123G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647462.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495821.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000495821.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.1112G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1106,
          "referenceAllele": "G",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000298552.3:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.5:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000386093.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 967,
          "referenceAllele": "G",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Ser295Thr",
        "hgvsWellDefined": "ENSP00000394524.2:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.5:n.1080G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.731G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Ser244Thr",
        "hgvsWellDefined": "ENSP00000444017.1:p.Ser244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825156035",
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.884G>C",
        "LRG_486t1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Ser295Thr",
        "hgvsWellDefined": "NP_000359.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915986841",
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Ser295Thr",
        "hgvsWellDefined": "NP_001155898.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825955355",
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.731G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Ser244Thr",
        "hgvsWellDefined": "NP_001155899.1:p.Ser244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Ser295Thr",
        "hgvsWellDefined": "XP_005272268.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Ser295Thr",
        "hgvsWellDefined": "XP_006717334.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717272.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717335.1:p.Ser295Thr",
        "hgvsWellDefined": "XP_006717335.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Ser295Thr",
        "hgvsWellDefined": "XP_011517281.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059335",
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.521G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Ser174Thr",
        "hgvsWellDefined": "NP_001349106.1:p.Ser174Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Ser295Thr",
        "hgvsWellDefined": "XP_011517281.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1577,
          "referenceAllele": "G",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Ser295Thr",
        "hgvsWellDefined": "XP_016870585.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1548,
          "referenceAllele": "G",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Ser295Thr",
        "hgvsWellDefined": "XP_016870586.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Ser295Thr",
        "hgvsWellDefined": "XP_016870587.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1227,
          "referenceAllele": "G",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.521G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Ser174Thr",
        "hgvsWellDefined": "XP_016870589.1:p.Ser174Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.521G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Ser174Thr",
        "hgvsWellDefined": "XP_016870590.1:p.Ser174Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825156035",
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Ser295Thr",
        "hgvsWellDefined": "NP_000359.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.884G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.884G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Ser295Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Ser295Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915986841",
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.884G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Ser295Thr",
        "hgvsWellDefined": "NP_001155898.1:p.Ser295Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825955355",
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.731G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Ser244Thr",
        "hgvsWellDefined": "NP_001155899.1:p.Ser244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059335",
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.521G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Ser174Thr",
        "hgvsWellDefined": "NP_001349106.1:p.Ser174Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}