{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007549",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6203764",
        "active": true,
        "id": "COSM6203764"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6203765",
        "active": true,
        "id": "COSM6203765"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75642[alleleid]",
        "alleleId": 75642,
        "preferredName": "NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64713",
        "RCV": [
          "RCV000054889",
          "RCV002513715"
        ],
        "variationId": 64713
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135798848C>T?assembly=hg19",
        "id": "chr9:g.135798848C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132923461C>T?assembly=hg38",
        "id": "chr9:g.132923461C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514784",
        "rs": 397514784
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 132923461,
          "referenceAllele": "C",
          "start": 132923460
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132923461C>T",
        "CM000671.2:g.132923461C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 135798848,
          "referenceAllele": "C",
          "start": 135798847
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135798848C>T",
        "CM000671.1:g.135798848C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134788669,
          "referenceAllele": "C",
          "start": 134788668
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134788669C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26173,
          "referenceAllele": "G",
          "start": 26172
        }
      ],
      "hgvs": [
        "NG_012386.1:g.26173G>A",
        "LRG_486:g.26173G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000496126.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000495533.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000494743.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000495598.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Gly81Asp",
        "hgvsWellDefined": "ENSP00000496398.2:p.Gly81Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000495546.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Gly11Asp",
        "hgvsWellDefined": "ENSP00000494916.2:p.Gly11Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000495428.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Gly81Asp",
        "hgvsWellDefined": "ENSP00000493639.2:p.Gly81Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000495830.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000496066.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000298552.3:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.395G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.395G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Gly132Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Gly132Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.6:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000386093.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.6:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000496126.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642344.1:c.*136G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494847.1:n.*136G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000493773.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000496772.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642646.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496292.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000496292.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642745.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493963.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000493963.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*165G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642854.1:c.*180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494639.1:n.*180G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Gly81Asp",
        "hgvsWellDefined": "ENSP00000496691.1:p.Gly81Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.1:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.1:p.Gly81Asp",
        "hgvsWellDefined": "ENSP00000496398.1:p.Gly81Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000494685.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.1:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.1:p.Gly11Asp",
        "hgvsWellDefined": "ENSP00000494916.1:p.Gly11Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000495158.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000494682.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*165G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644997.1:c.*52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495654.1:n.*52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.1:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.1:p.Gly81Asp",
        "hgvsWellDefined": "ENSP00000493639.1:p.Gly81Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645150.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494365.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000494365.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.598G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2073,
          "referenceAllele": "G",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645904.1:n.2073G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*165G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000496263.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000496066.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000494502.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647462.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495821.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000495821.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.623G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000298552.3:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.5:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000386093.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Gly132Asp",
        "hgvsWellDefined": "ENSP00000394524.2:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000461879.5:n.224G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.5:n.552G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.5:n.591G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Gly81Asp",
        "hgvsWellDefined": "ENSP00000444017.1:p.Gly81Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA264254",
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.395G>A",
        "LRG_486t1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Gly132Asp",
        "hgvsWellDefined": "NP_000359.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825917122",
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Gly132Asp",
        "hgvsWellDefined": "NP_001155898.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987350",
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Gly81Asp",
        "hgvsWellDefined": "NP_001155899.1:p.Gly81Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Gly132Asp",
        "hgvsWellDefined": "XP_005272268.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Gly132Asp",
        "hgvsWellDefined": "XP_006717334.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717272.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717335.1:p.Gly132Asp",
        "hgvsWellDefined": "XP_006717335.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Gly132Asp",
        "hgvsWellDefined": "XP_011517281.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059009",
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Gly11Asp",
        "hgvsWellDefined": "NP_001349106.1:p.Gly11Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Gly132Asp",
        "hgvsWellDefined": "XP_011517281.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Gly132Asp",
        "hgvsWellDefined": "XP_016870585.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Gly132Asp",
        "hgvsWellDefined": "XP_016870586.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Gly132Asp",
        "hgvsWellDefined": "XP_016870587.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Gly11Asp",
        "hgvsWellDefined": "XP_016870589.1:p.Gly11Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Gly11Asp",
        "hgvsWellDefined": "XP_016870590.1:p.Gly11Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA264254",
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Gly132Asp",
        "hgvsWellDefined": "NP_000359.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.395G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.395G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Gly132Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Gly132Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825917122",
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Gly132Asp",
        "hgvsWellDefined": "NP_001155898.1:p.Gly132Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987350",
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Gly81Asp",
        "hgvsWellDefined": "NP_001155899.1:p.Gly81Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059009",
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Gly11Asp",
        "hgvsWellDefined": "NP_001349106.1:p.Gly11Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}