{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006415",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58114[alleleid]",
        "alleleId": 58114,
        "preferredName": "NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48952",
        "RCV": [
          "RCV000042203",
          "RCV000642006",
          "RCV003298084",
          "RCV002483037"
        ],
        "variationId": 48952
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135777058A>G?assembly=hg19",
        "id": "chr9:g.135777058A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132901671A>G?assembly=hg38",
        "id": "chr9:g.132901671A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203690",
        "rs": 118203690
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135777058-A-G?dataset=gnomad_r2_1",
        "id": "9-135777058-A-G",
        "variant": "9:135777058 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132901671-A-G?dataset=gnomad_r3",
        "id": "9-132901671-A-G",
        "variant": "9:132901671 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132901671-A-G?dataset=gnomad_r4",
        "id": "9-132901671-A-G",
        "variant": "9:132901671 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132901671,
          "referenceAllele": "A",
          "start": 132901670
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132901671A>G",
        "CM000671.2:g.132901671A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135777058,
          "referenceAllele": "A",
          "start": 135777057
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135777058A>G",
        "CM000671.1:g.135777058A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 134766879,
          "referenceAllele": "A",
          "start": 134766878
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134766879A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47963,
          "referenceAllele": "T",
          "start": 47962
        }
      ],
      "hgvs": [
        "NG_012386.1:g.47963T>C",
        "LRG_486:g.47963T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2574,
          "referenceAllele": "T",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Ile806Thr",
        "hgvsWellDefined": "ENSP00000496126.2:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2729,
          "referenceAllele": "T",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Ile807Thr",
        "hgvsWellDefined": "ENSP00000495533.2:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2633,
          "referenceAllele": "T",
          "start": 2632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.*199T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:n.*199T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2593,
          "referenceAllele": "T",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.*360T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:n.*360T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2292,
          "referenceAllele": "T",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.2033T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Ile678Thr",
        "hgvsWellDefined": "ENSP00000496398.2:p.Ile678Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.*162T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:n.*162T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2335,
          "referenceAllele": "T",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.2057T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Ile686Thr",
        "hgvsWellDefined": "ENSP00000494916.2:p.Ile686Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2644,
          "referenceAllele": "T",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Ile807Thr",
        "hgvsWellDefined": "ENSP00000495428.2:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2469,
          "referenceAllele": "T",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.2264T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Ile755Thr",
        "hgvsWellDefined": "ENSP00000493639.2:p.Ile755Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2754,
          "referenceAllele": "T",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Ile807Thr",
        "hgvsWellDefined": "ENSP00000495830.2:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2637,
          "referenceAllele": "T",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Ile807Thr",
        "hgvsWellDefined": "ENSP00000298552.3:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.2420T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.2420T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Ile807Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Ile807Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.1:c.480T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "referenceAllele": "T",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Ile806Thr",
        "hgvsWellDefined": "ENSP00000493773.1:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2622,
          "referenceAllele": "T",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.2402T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Ile801Thr",
        "hgvsWellDefined": "ENSP00000496772.1:p.Ile801Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2507,
          "referenceAllele": "T",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*2190T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*2190T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2484,
          "referenceAllele": "T",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.2267T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Ile756Thr",
        "hgvsWellDefined": "ENSP00000496691.1:p.Ile756Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.1:c.894T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.1:n.894T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2621,
          "referenceAllele": "T",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.2405T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Ile802Thr",
        "hgvsWellDefined": "ENSP00000494685.1:p.Ile802Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 297,
          "referenceAllele": "T",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.1:c.297T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.1:n.297T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2634,
          "referenceAllele": "T",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Ile807Thr",
        "hgvsWellDefined": "ENSP00000495158.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2758,
          "referenceAllele": "T",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Ile806Thr",
        "hgvsWellDefined": "ENSP00000494682.1:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.1:c.1157T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.1:p.Ile386Thr",
        "hgvsWellDefined": "ENSP00000495428.1:p.Ile386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2540,
          "referenceAllele": "T",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*2187T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*2187T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2795,
          "referenceAllele": "T",
          "start": 2794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644319.1:n.2795T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79,
          "referenceAllele": "T",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644786.1:n.79T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1375,
          "referenceAllele": "T",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644882.1:n.1375T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3271,
          "referenceAllele": "T",
          "start": 3270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.3271T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2550,
          "referenceAllele": "T",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*2190T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*2190T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2625,
          "referenceAllele": "T",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Ile807Thr",
        "hgvsWellDefined": "ENSP00000496263.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "T",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647262.1:n.1385T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2555,
          "referenceAllele": "T",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.*1659T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.*1659T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3296,
          "referenceAllele": "T",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.3296T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1484,
          "referenceAllele": "T",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647534.1:n.1484T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2642,
          "referenceAllele": "T",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Ile807Thr",
        "hgvsWellDefined": "ENSP00000298552.3:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2503,
          "referenceAllele": "T",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Ile807Thr",
        "hgvsWellDefined": "ENSP00000394524.2:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2350,
          "referenceAllele": "T",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.2267T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Ile756Thr",
        "hgvsWellDefined": "ENSP00000444017.1:p.Ile756Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262290",
      "coordinates": [
        {
          "allele": "C",
          "end": 2654,
          "referenceAllele": "T",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.2420T>C",
        "LRG_486t1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Ile807Thr",
        "hgvsWellDefined": "NP_000359.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825957266",
      "coordinates": [
        {
          "allele": "C",
          "end": 2651,
          "referenceAllele": "T",
          "start": 2650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Ile806Thr",
        "hgvsWellDefined": "NP_001155898.1:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825957200",
      "coordinates": [
        {
          "allele": "C",
          "end": 2501,
          "referenceAllele": "T",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.2267T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Ile756Thr",
        "hgvsWellDefined": "NP_001155899.1:p.Ile756Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2699,
          "referenceAllele": "T",
          "start": 2698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Ile807Thr",
        "hgvsWellDefined": "XP_005272268.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2634,
          "referenceAllele": "T",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Ile807Thr",
        "hgvsWellDefined": "XP_006717334.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2749,
          "referenceAllele": "T",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Ile807Thr",
        "hgvsWellDefined": "XP_011517281.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828060622",
      "coordinates": [
        {
          "allele": "C",
          "end": 2550,
          "referenceAllele": "T",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.2057T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Ile686Thr",
        "hgvsWellDefined": "NP_001349106.1:p.Ile686Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2648,
          "referenceAllele": "T",
          "start": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Ile807Thr",
        "hgvsWellDefined": "XP_011517281.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3113,
          "referenceAllele": "T",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Ile807Thr",
        "hgvsWellDefined": "XP_016870585.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3084,
          "referenceAllele": "T",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Ile807Thr",
        "hgvsWellDefined": "XP_016870586.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2696,
          "referenceAllele": "T",
          "start": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Ile806Thr",
        "hgvsWellDefined": "XP_016870587.1:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2763,
          "referenceAllele": "T",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.2057T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Ile686Thr",
        "hgvsWellDefined": "XP_016870589.1:p.Ile686Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2790,
          "referenceAllele": "T",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.2054T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Ile685Thr",
        "hgvsWellDefined": "XP_016870590.1:p.Ile685Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262290",
      "coordinates": [
        {
          "allele": "C",
          "end": 2637,
          "referenceAllele": "T",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.2420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Ile807Thr",
        "hgvsWellDefined": "NP_000359.1:p.Ile807Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.2420T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.2420T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Ile807Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Ile807Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825957266",
      "coordinates": [
        {
          "allele": "C",
          "end": 2634,
          "referenceAllele": "T",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Ile806Thr",
        "hgvsWellDefined": "NP_001155898.1:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825957200",
      "coordinates": [
        {
          "allele": "C",
          "end": 2484,
          "referenceAllele": "T",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.2267T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Ile756Thr",
        "hgvsWellDefined": "NP_001155899.1:p.Ile756Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828060622",
      "coordinates": [
        {
          "allele": "C",
          "end": 2533,
          "referenceAllele": "T",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.2057T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Ile686Thr",
        "hgvsWellDefined": "NP_001349106.1:p.Ile686Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}