{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA004868",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50129[alleleid]",
        "alleleId": 50129,
        "preferredName": "NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41690",
        "RCV": [
          "RCV000034602",
          "RCV000054845",
          "RCV000189811",
          "RCV000319085",
          "RCV000568490",
          "RCV000761004",
          "RCV001085737"
        ],
        "variationId": 41690
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-135781505-G-C",
        "id": "9-135781505-G-C",
        "variant": "9:135781505 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135781505G>C?assembly=hg19",
        "id": "chr9:g.135781505G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132906118G>C?assembly=hg38",
        "id": "chr9:g.132906118G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203532",
        "rs": 118203532
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135781505-G-C?dataset=gnomad_r2_1",
        "id": "9-135781505-G-C",
        "variant": "9:135781505 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132906118-G-C?dataset=gnomad_r3",
        "id": "9-132906118-G-C",
        "variant": "9:132906118 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132906118-G-C?dataset=gnomad_r4",
        "id": "9-132906118-G-C",
        "variant": "9:132906118 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132906118,
          "referenceAllele": "G",
          "start": 132906117
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132906118G>C",
        "CM000671.2:g.132906118G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 135781505,
          "referenceAllele": "G",
          "start": 135781504
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135781505G>C",
        "CM000671.1:g.135781505G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 134771326,
          "referenceAllele": "G",
          "start": 134771325
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134771326G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43516,
          "referenceAllele": "C",
          "start": 43515
        }
      ],
      "hgvs": [
        "NG_012386.1:g.43516C>G",
        "LRG_486:g.43516C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.1457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Ser486Cys",
        "hgvsWellDefined": "ENSP00000496126.2:p.Ser486Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1769,
          "referenceAllele": "C",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000495533.2:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1677,
          "referenceAllele": "C",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000494743.2:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1677,
          "referenceAllele": "C",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000495598.2:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.1073C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Ser358Cys",
        "hgvsWellDefined": "ENSP00000496398.2:p.Ser358Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000495546.2:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.1097C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Ser366Cys",
        "hgvsWellDefined": "ENSP00000494916.2:p.Ser366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000495428.2:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1509,
          "referenceAllele": "C",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Ser435Cys",
        "hgvsWellDefined": "ENSP00000493639.2:p.Ser435Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000495830.2:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1677,
          "referenceAllele": "C",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000298552.3:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.1460C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.1460C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Ser487Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Ser487Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.1457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Ser486Cys",
        "hgvsWellDefined": "ENSP00000493773.1:p.Ser486Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1677,
          "referenceAllele": "C",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.1457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Ser486Cys",
        "hgvsWellDefined": "ENSP00000496772.1:p.Ser486Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*1230C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643072.1:c.1307C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496691.1:p.Ser436Cys",
        "hgvsWellDefined": "ENSP00000496691.1:p.Ser436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643583.1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494685.1:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000494685.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643875.1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495158.1:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000495158.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1798,
          "referenceAllele": "C",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644097.1:c.1457C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494682.1:p.Ser486Cys",
        "hgvsWellDefined": "ENSP00000494682.1:p.Ser486Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.1:c.197C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.1:p.Ser66Cys",
        "hgvsWellDefined": "ENSP00000495428.1:p.Ser66Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644255.1:c.*1227C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493608.1:n.*1227C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644319.1:n.1835C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644882.1:n.415C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2311,
          "referenceAllele": "C",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645901.1:n.2311C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646391.1:c.*1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494104.1:n.*1230C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646625.1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000496263.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647262.1:n.425C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.*699C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.*699C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2336,
          "referenceAllele": "C",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.2336C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647534.1:n.524C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1682,
          "referenceAllele": "C",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000298552.3:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Ser487Cys",
        "hgvsWellDefined": "ENSP00000394524.2:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.1307C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Ser436Cys",
        "hgvsWellDefined": "ENSP00000444017.1:p.Ser436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA215763",
      "coordinates": [
        {
          "allele": "G",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.1460C>G",
        "LRG_486t1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Ser487Cys",
        "hgvsWellDefined": "NP_000359.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825956048",
      "coordinates": [
        {
          "allele": "G",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.1457C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Ser486Cys",
        "hgvsWellDefined": "NP_001155898.1:p.Ser486Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825956012",
      "coordinates": [
        {
          "allele": "G",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.1307C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Ser436Cys",
        "hgvsWellDefined": "NP_001155899.1:p.Ser436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Ser487Cys",
        "hgvsWellDefined": "XP_005272268.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Ser487Cys",
        "hgvsWellDefined": "XP_006717334.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717272.2:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717335.1:p.Ser487Cys",
        "hgvsWellDefined": "XP_006717335.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Ser487Cys",
        "hgvsWellDefined": "XP_011517281.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059817",
      "coordinates": [
        {
          "allele": "G",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.1097C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Ser366Cys",
        "hgvsWellDefined": "NP_001349106.1:p.Ser366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Ser487Cys",
        "hgvsWellDefined": "XP_011517281.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2153,
          "referenceAllele": "C",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Ser487Cys",
        "hgvsWellDefined": "XP_016870585.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Ser487Cys",
        "hgvsWellDefined": "XP_016870586.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.1457C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Ser486Cys",
        "hgvsWellDefined": "XP_016870587.1:p.Ser486Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.1097C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Ser366Cys",
        "hgvsWellDefined": "XP_016870589.1:p.Ser366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.1094C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Ser365Cys",
        "hgvsWellDefined": "XP_016870590.1:p.Ser365Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA215763",
      "coordinates": [
        {
          "allele": "G",
          "end": 1677,
          "referenceAllele": "C",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.1460C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Ser487Cys",
        "hgvsWellDefined": "NP_000359.1:p.Ser487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.1460C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.1460C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Ser487Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Ser487Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825956048",
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.1457C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Ser486Cys",
        "hgvsWellDefined": "NP_001155898.1:p.Ser486Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825956012",
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.1307C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Ser436Cys",
        "hgvsWellDefined": "NP_001155899.1:p.Ser436Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059817",
      "coordinates": [
        {
          "allele": "G",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.1097C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Ser366Cys",
        "hgvsWellDefined": "NP_001349106.1:p.Ser366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}