{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA004402",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75746[alleleid]",
        "alleleId": 75746,
        "preferredName": "NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64817",
        "RCV": [
          "RCV000055009",
          "RCV000217275",
          "RCV000642024",
          "RCV000725515"
        ],
        "variationId": 64817
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-135786446-G-A",
        "id": "9-135786446-G-A",
        "variant": "9:135786446 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135786446G>A?assembly=hg19",
        "id": "chr9:g.135786446G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132911059G>A?assembly=hg38",
        "id": "chr9:g.132911059G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514864",
        "rs": 397514864
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135786446-G-A?dataset=gnomad_r2_1",
        "id": "9-135786446-G-A",
        "variant": "9:135786446 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132911059-G-A?dataset=gnomad_r3",
        "id": "9-132911059-G-A",
        "variant": "9:132911059 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132911059-G-A?dataset=gnomad_r4",
        "id": "9-132911059-G-A",
        "variant": "9:132911059 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 132911059,
          "referenceAllele": "G",
          "start": 132911058
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132911059G>A",
        "CM000671.2:g.132911059G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 135786446,
          "referenceAllele": "G",
          "start": 135786445
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135786446G>A",
        "CM000671.1:g.135786446G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 134776267,
          "referenceAllele": "G",
          "start": 134776266
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134776267G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38575,
          "referenceAllele": "C",
          "start": 38574
        }
      ],
      "hgvs": [
        "NG_012386.1:g.38575C>T",
        "LRG_486:g.38575C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000496126.2:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000495533.2:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000494743.2:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000495598.2:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "C",
          "start": 1135,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.876+394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:n.876+394C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000495546.2:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Pro241Ser",
        "hgvsWellDefined": "ENSP00000494916.2:p.Pro241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000495428.2:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Pro311Ser",
        "hgvsWellDefined": "ENSP00000493639.2:p.Pro311Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000495830.2:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.2:c.1127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Ser376Phe",
        "hgvsWellDefined": "ENSP00000496066.1:p.Ser376Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000298552.3:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.1084C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.1084C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Pro362Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Pro362Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.6:c.*322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:n.*322C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.6:n.358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642344.1:c.*825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494847.1:n.*825C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000493773.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000496772.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1606,
          "referenceAllele": "C",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642646.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496292.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000496292.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642745.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493963.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000493963.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*854C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*854C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Pro311Ser",
        "hgvsWellDefined": "ENSP00000496691.1:p.Pro311Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "C",
          "start": 1135,
          "startIntronDirection": "+",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.1:c.876+394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.1:n.876+394C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000494685.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000495158.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1425,
          "referenceAllele": "C",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000494682.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*854C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*854C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644319.1:n.1150C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644997.1:c.*741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495654.1:n.*741C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.1:p.Pro311Ser",
        "hgvsWellDefined": "ENSP00000493639.1:p.Pro311Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645150.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494365.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000494365.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.1626C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*854C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*854C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000496263.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.1:c.1127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Ser376Phe",
        "hgvsWellDefined": "ENSP00000496066.1:p.Ser376Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.*323C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.*323C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647462.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495821.1:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000495821.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1651,
          "referenceAllele": "C",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.1651C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647534.1:n.148C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000298552.3:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Pro362Ser",
        "hgvsWellDefined": "ENSP00000394524.2:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.5:n.1280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Pro311Ser",
        "hgvsWellDefined": "ENSP00000444017.1:p.Pro311Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA264328",
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.1084C>T",
        "LRG_486t1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Pro362Ser",
        "hgvsWellDefined": "NP_000359.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987021",
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Pro362Ser",
        "hgvsWellDefined": "NP_001155898.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825955579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Pro311Ser",
        "hgvsWellDefined": "NP_001155899.1:p.Pro311Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Pro362Ser",
        "hgvsWellDefined": "XP_005272268.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Pro362Ser",
        "hgvsWellDefined": "XP_006717334.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717272.2:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717335.1:p.Pro362Ser",
        "hgvsWellDefined": "XP_006717335.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Pro362Ser",
        "hgvsWellDefined": "XP_011517281.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059516",
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Pro241Ser",
        "hgvsWellDefined": "NP_001349106.1:p.Pro241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Pro362Ser",
        "hgvsWellDefined": "XP_011517281.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Pro362Ser",
        "hgvsWellDefined": "XP_016870585.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Pro362Ser",
        "hgvsWellDefined": "XP_016870586.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Pro362Ser",
        "hgvsWellDefined": "XP_016870587.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Pro241Ser",
        "hgvsWellDefined": "XP_016870589.1:p.Pro241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Pro241Ser",
        "hgvsWellDefined": "XP_016870590.1:p.Pro241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA264328",
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Pro362Ser",
        "hgvsWellDefined": "NP_000359.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.1084C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.1084C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Pro362Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Pro362Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987021",
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Pro362Ser",
        "hgvsWellDefined": "NP_001155898.1:p.Pro362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825955579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Pro311Ser",
        "hgvsWellDefined": "NP_001155899.1:p.Pro311Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059516",
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Pro241Ser",
        "hgvsWellDefined": "NP_001349106.1:p.Pro241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}