{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA319317",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202464[alleleid]",
        "alleleId": 202464,
        "preferredName": "NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207641",
        "RCV": [
          "RCV000189860",
          "RCV001079866",
          "RCV002256098",
          "RCV003996858"
        ],
        "variationId": 207641
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-135771987-C-T",
        "id": "9-135771987-C-T",
        "variant": "9:135771987 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135771987C>T?assembly=hg19",
        "id": "chr9:g.135771987C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135771987_135771993delinsTGCTGCT?assembly=hg19",
        "id": "chr9:g.135771987_135771993delinsTGCTGCT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135771987_135771996delinsTGCTGCTGCT?assembly=hg19",
        "id": "chr9:g.135771987_135771996delinsTGCTGCTGCT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132896600C>T?assembly=hg38",
        "id": "chr9:g.132896600C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796053462",
        "rs": 796053462
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132896600-C-T?dataset=gnomad_r3",
        "id": "9-132896600-C-T",
        "variant": "9:132896600 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132896600-C-T?dataset=gnomad_r4",
        "id": "9-132896600-C-T",
        "variant": "9:132896600 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 132896600,
          "referenceAllele": "C",
          "start": 132896599
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132896600C>T",
        "CM000671.2:g.132896600C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 135771987,
          "referenceAllele": "C",
          "start": 135771986
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135771987C>T",
        "CM000671.1:g.135771987C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134761808,
          "referenceAllele": "C",
          "start": 134761807
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134761808C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53034,
          "referenceAllele": "G",
          "start": 53033
        }
      ],
      "hgvs": [
        "NG_012386.1:g.53034G>A",
        "LRG_486:g.53034G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3284,
          "referenceAllele": "G",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.3127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Glu1043Lys",
        "hgvsWellDefined": "ENSP00000496126.2:p.Glu1043Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3439,
          "referenceAllele": "G",
          "start": 3438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Glu1044Lys",
        "hgvsWellDefined": "ENSP00000495533.2:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3420,
          "referenceAllele": "G",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.*986G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:n.*986G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3303,
          "referenceAllele": "G",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.*1070G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:n.*1070G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3002,
          "referenceAllele": "G",
          "start": 3001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.2743G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Glu915Lys",
        "hgvsWellDefined": "ENSP00000496398.2:p.Glu915Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3159,
          "referenceAllele": "G",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.*872G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:n.*872G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3045,
          "referenceAllele": "G",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.2767G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Glu923Lys",
        "hgvsWellDefined": "ENSP00000494916.2:p.Glu923Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3312,
          "referenceAllele": "G",
          "start": 3311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.3088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Glu1030Lys",
        "hgvsWellDefined": "ENSP00000495428.2:p.Glu1030Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3179,
          "referenceAllele": "G",
          "start": 3178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Glu992Lys",
        "hgvsWellDefined": "ENSP00000493639.2:p.Glu992Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Glu1044Lys",
        "hgvsWellDefined": "ENSP00000495830.2:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Glu1044Lys",
        "hgvsWellDefined": "ENSP00000298552.3:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.3130G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.3130G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Glu1044Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Glu1044Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.1:c.1267G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3351,
          "referenceAllele": "G",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.3127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Glu1043Lys",
        "hgvsWellDefined": "ENSP00000493773.1:p.Glu1043Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3332,
          "referenceAllele": "G",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.3112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Glu1038Lys",
        "hgvsWellDefined": "ENSP00000496772.1:p.Glu1038Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3217,
          "referenceAllele": "G",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*2900G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*2900G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.2977G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Glu993Lys",
        "hgvsWellDefined": "ENSP00000496691.1:p.Glu993Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.1:c.1604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.1:n.1604G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3331,
          "referenceAllele": "G",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.3115G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Glu1039Lys",
        "hgvsWellDefined": "ENSP00000494685.1:p.Glu1039Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.1:c.1007G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.1:n.1007G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3344,
          "referenceAllele": "G",
          "start": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Glu1044Lys",
        "hgvsWellDefined": "ENSP00000495158.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3468,
          "referenceAllele": "G",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.3127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Glu1043Lys",
        "hgvsWellDefined": "ENSP00000494682.1:p.Glu1043Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.1:c.1825G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.1:p.Glu609Lys",
        "hgvsWellDefined": "ENSP00000495428.1:p.Glu609Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3250,
          "referenceAllele": "G",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*2897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*2897G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644319.1:n.3505G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644786.1:n.789G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2038,
          "referenceAllele": "G",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644882.1:n.2038G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3981,
          "referenceAllele": "G",
          "start": 3980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.3981G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3260,
          "referenceAllele": "G",
          "start": 3259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*2900G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*2900G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3335,
          "referenceAllele": "G",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Glu1044Lys",
        "hgvsWellDefined": "ENSP00000496263.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2095,
          "referenceAllele": "G",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647262.1:n.2095G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3265,
          "referenceAllele": "G",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.*2369G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.*2369G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2194,
          "referenceAllele": "G",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647534.1:n.2194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3352,
          "referenceAllele": "G",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Glu1044Lys",
        "hgvsWellDefined": "ENSP00000298552.3:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3213,
          "referenceAllele": "G",
          "start": 3212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Glu1044Lys",
        "hgvsWellDefined": "ENSP00000394524.2:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3060,
          "referenceAllele": "G",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.2977G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Glu993Lys",
        "hgvsWellDefined": "ENSP00000444017.1:p.Glu993Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319319",
      "coordinates": [
        {
          "allele": "A",
          "end": 3364,
          "referenceAllele": "G",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.3130G>A",
        "LRG_486t1:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Glu1044Lys",
        "hgvsWellDefined": "NP_000359.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825919380",
      "coordinates": [
        {
          "allele": "A",
          "end": 3361,
          "referenceAllele": "G",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.3127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Glu1043Lys",
        "hgvsWellDefined": "NP_001155898.1:p.Glu1043Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987539",
      "coordinates": [
        {
          "allele": "A",
          "end": 3211,
          "referenceAllele": "G",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.2977G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Glu993Lys",
        "hgvsWellDefined": "NP_001155899.1:p.Glu993Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3409,
          "referenceAllele": "G",
          "start": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Glu1044Lys",
        "hgvsWellDefined": "XP_005272268.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3344,
          "referenceAllele": "G",
          "start": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Glu1044Lys",
        "hgvsWellDefined": "XP_006717334.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3459,
          "referenceAllele": "G",
          "start": 3458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Glu1044Lys",
        "hgvsWellDefined": "XP_011517281.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828061199",
      "coordinates": [
        {
          "allele": "A",
          "end": 3260,
          "referenceAllele": "G",
          "start": 3259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.2767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Glu923Lys",
        "hgvsWellDefined": "NP_001349106.1:p.Glu923Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3358,
          "referenceAllele": "G",
          "start": 3357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Glu1044Lys",
        "hgvsWellDefined": "XP_011517281.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3823,
          "referenceAllele": "G",
          "start": 3822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Glu1044Lys",
        "hgvsWellDefined": "XP_016870585.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3794,
          "referenceAllele": "G",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Glu1044Lys",
        "hgvsWellDefined": "XP_016870586.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3406,
          "referenceAllele": "G",
          "start": 3405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.3127G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Glu1043Lys",
        "hgvsWellDefined": "XP_016870587.1:p.Glu1043Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3473,
          "referenceAllele": "G",
          "start": 3472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.2767G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Glu923Lys",
        "hgvsWellDefined": "XP_016870589.1:p.Glu923Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3500,
          "referenceAllele": "G",
          "start": 3499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.2764G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Glu922Lys",
        "hgvsWellDefined": "XP_016870590.1:p.Glu922Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319319",
      "coordinates": [
        {
          "allele": "A",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.3130G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Glu1044Lys",
        "hgvsWellDefined": "NP_000359.1:p.Glu1044Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.3130G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.3130G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Glu1044Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Glu1044Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825919380",
      "coordinates": [
        {
          "allele": "A",
          "end": 3344,
          "referenceAllele": "G",
          "start": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.3127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Glu1043Lys",
        "hgvsWellDefined": "NP_001155898.1:p.Glu1043Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987539",
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.2977G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Glu993Lys",
        "hgvsWellDefined": "NP_001155899.1:p.Glu993Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828061199",
      "coordinates": [
        {
          "allele": "A",
          "end": 3243,
          "referenceAllele": "G",
          "start": 3242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.2767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Glu923Lys",
        "hgvsWellDefined": "NP_001349106.1:p.Glu923Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}