{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15604821",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.97+8205A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101875789A>C?assembly=hg19",
        "id": "chr9:g.101875789A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.99113507A>C?assembly=hg38",
        "id": "chr9:g.99113507A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10739778",
        "rs": 10739778
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101875789-A-C?dataset=gnomad_r2_1",
        "id": "9-101875789-A-C",
        "variant": "9:101875789 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99113507-A-C?dataset=gnomad_r3",
        "id": "9-99113507-A-C",
        "variant": "9:99113507 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99113507-A-C?dataset=gnomad_r4",
        "id": "9-99113507-A-C",
        "variant": "9:99113507 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 99113507,
          "referenceAllele": "A",
          "start": 99113506
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99113507A>C",
        "CM000671.2:g.99113507A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 101875789,
          "referenceAllele": "A",
          "start": 101875788
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101875789A>C",
        "CM000671.1:g.101875789A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 100915610,
          "referenceAllele": "A",
          "start": 100915609
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100915610A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13378,
          "referenceAllele": "A",
          "start": 13377
        }
      ],
      "hgvs": [
        "NG_007461.1:g.13378A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 9401,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 9400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.-111+9401A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:n.-111+9401A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 9401,
          "referenceAllele": "A",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 9400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.-111+9401A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:n.-111+9401A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 8382,
          "referenceAllele": "A",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 8381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.-111+8382A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:n.-111+8382A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.97+8205A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.97+8205A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:n.97+8205A>C"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:n.97+8205A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 192,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 192,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 9401,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 9400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.5:c.-111+9401A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.1:n.-111+9401A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 153,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 153,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 9401,
          "referenceAllele": "A",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 9400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.6:c.-111+9401A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.2:n.-111+9401A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 9401,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 9400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.-111+9401A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:n.-111+9401A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 9401,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 9400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.-111+9401A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:n.-111+9401A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 92,
          "endIntronDirection": "+",
          "endIntronOffset": 8382,
          "referenceAllele": "A",
          "start": 92,
          "startIntronDirection": "+",
          "startIntronOffset": 8381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.-111+8382A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:n.-111+8382A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.97+8205A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.97+8205A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:n.97+8205A>C"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:n.97+8205A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 8205,
          "referenceAllele": "A",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.97+8205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:n.97+8205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}