{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008318",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.851G>A (p.Arg284His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4761744"
      },
      {
        "active": false,
        "id": "COSM4761745"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50138[alleleid]",
        "alleleId": 50138,
        "preferredName": "NM_000368.5(TSC1):c.851G>A (p.Arg284His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41699",
        "RCV": [
          "RCV000034612",
          "RCV001080486",
          "RCV001017939"
        ],
        "variationId": 41699
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-135787731-C-T",
        "id": "9-135787731-C-T",
        "variant": "9:135787731 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135787731C>T?assembly=hg19",
        "id": "chr9:g.135787731C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132912344C>T?assembly=hg38",
        "id": "chr9:g.132912344C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151309813",
        "rs": 151309813
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135787731-C-T?dataset=gnomad_r2_1",
        "id": "9-135787731-C-T",
        "variant": "9:135787731 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132912344-C-T?dataset=gnomad_r3",
        "id": "9-132912344-C-T",
        "variant": "9:132912344 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132912344-C-T?dataset=gnomad_r4",
        "id": "9-132912344-C-T",
        "variant": "9:132912344 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 132912344,
          "referenceAllele": "C",
          "start": 132912343
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132912344C>T",
        "CM000671.2:g.132912344C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 135787731,
          "referenceAllele": "C",
          "start": 135787730
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135787731C>T",
        "CM000671.1:g.135787731C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134777552,
          "referenceAllele": "C",
          "start": 134777551
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134777552C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37290,
          "referenceAllele": "G",
          "start": 37289
        }
      ],
      "hgvs": [
        "NG_012386.1:g.37290G>A",
        "LRG_486:g.37290G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Arg284His",
        "hgvsWellDefined": "ENSP00000496126.2:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Arg284His",
        "hgvsWellDefined": "ENSP00000495533.2:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:p.Arg284His",
        "hgvsWellDefined": "ENSP00000494743.2:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:p.Arg284His",
        "hgvsWellDefined": "ENSP00000495598.2:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Arg233His",
        "hgvsWellDefined": "ENSP00000496398.2:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:p.Arg284His",
        "hgvsWellDefined": "ENSP00000495546.2:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Arg163His",
        "hgvsWellDefined": "ENSP00000494916.2:p.Arg163His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Arg284His",
        "hgvsWellDefined": "ENSP00000495428.2:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "referenceAllele": "G",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Arg233His",
        "hgvsWellDefined": "ENSP00000493639.2:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Arg284His",
        "hgvsWellDefined": "ENSP00000495830.2:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000496066.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Arg284His",
        "hgvsWellDefined": "ENSP00000298552.3:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.851G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.851G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Arg284His"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Arg284His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.6:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000386093.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.6:n.125G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642344.1:c.*592G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494847.1:n.*592G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000493773.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000496772.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642646.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496292.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000496292.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642745.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493963.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000493963.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*621G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*621G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1310,
          "referenceAllele": "G",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642854.1:c.*636G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494639.1:n.*636G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Arg233His",
        "hgvsWellDefined": "ENSP00000496691.1:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.1:p.Arg233His",
        "hgvsWellDefined": "ENSP00000496398.1:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000494685.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.1:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.1:p.Arg163His",
        "hgvsWellDefined": "ENSP00000494916.1:p.Arg163His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000495158.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000494682.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*621G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*621G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644319.1:n.578G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644997.1:c.*508G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495654.1:n.*508G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "referenceAllele": "G",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.1:p.Arg233His",
        "hgvsWellDefined": "ENSP00000493639.1:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645150.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494365.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000494365.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.1054G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*621G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*621G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000496263.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647078.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496066.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000496066.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.*90G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.*90G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647462.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495821.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000495821.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.1079G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Arg284His",
        "hgvsWellDefined": "ENSP00000298552.3:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000403810.5:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386093.1:p.Arg284His",
        "hgvsWellDefined": "ENSP00000386093.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Arg284His",
        "hgvsWellDefined": "ENSP00000394524.2:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000493467.5:n.1047G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Arg233His",
        "hgvsWellDefined": "ENSP00000444017.1:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA215774",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.851G>A",
        "LRG_486t1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Arg284His",
        "hgvsWellDefined": "NP_000359.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915986820",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Arg284His",
        "hgvsWellDefined": "NP_001155898.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825955322",
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Arg233His",
        "hgvsWellDefined": "NP_001155899.1:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "referenceAllele": "G",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Arg284His",
        "hgvsWellDefined": "XP_005272268.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Arg284His",
        "hgvsWellDefined": "XP_006717334.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717272.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717335.1:p.Arg284His",
        "hgvsWellDefined": "XP_006717335.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Arg284His",
        "hgvsWellDefined": "XP_011517281.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059304",
      "coordinates": [
        {
          "allele": "A",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Arg163His",
        "hgvsWellDefined": "NP_001349106.1:p.Arg163His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Arg284His",
        "hgvsWellDefined": "XP_011517281.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Arg284His",
        "hgvsWellDefined": "XP_016870585.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Arg284His",
        "hgvsWellDefined": "XP_016870586.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "referenceAllele": "G",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Arg284His",
        "hgvsWellDefined": "XP_016870587.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Arg163His",
        "hgvsWellDefined": "XP_016870589.1:p.Arg163His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1224,
          "referenceAllele": "G",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Arg163His",
        "hgvsWellDefined": "XP_016870590.1:p.Arg163His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA215774",
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Arg284His",
        "hgvsWellDefined": "NP_000359.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.851G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.851G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Arg284His"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Arg284His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915986820",
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.851G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Arg284His",
        "hgvsWellDefined": "NP_001155898.1:p.Arg284His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825955322",
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Arg233His",
        "hgvsWellDefined": "NP_001155899.1:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059304",
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Arg163His",
        "hgvsWellDefined": "NP_001349106.1:p.Arg163His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}