{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14008731",
  "communityStandardTitle": [
    "NM_003239.5(TGFB3):c.352+2118G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.76444767C>T?assembly=hg19",
        "id": "chr14:g.76444767C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.75978424C>T?assembly=hg38",
        "id": "chr14:g.75978424C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2268626",
        "rs": 2268626
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-76444767-C-T?dataset=gnomad_r2_1",
        "id": "14-76444767-C-T",
        "variant": "14:76444767 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75978424-C-T?dataset=gnomad_r3",
        "id": "14-75978424-C-T",
        "variant": "14:75978424 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75978424-C-T?dataset=gnomad_r4",
        "id": "14-75978424-C-T",
        "variant": "14:75978424 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 75978424,
          "referenceAllele": "C",
          "start": 75978423
        }
      ],
      "hgvs": [
        "NC_000014.9:g.75978424C>T",
        "CM000676.2:g.75978424C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 76444767,
          "referenceAllele": "C",
          "start": 76444766
        }
      ],
      "hgvs": [
        "NC_000014.8:g.76444767C>T",
        "CM000676.1:g.76444767C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 75514520,
          "referenceAllele": "C",
          "start": 75514519
        }
      ],
      "hgvs": [
        "NC_000014.7:g.75514520C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8326,
          "referenceAllele": "G",
          "start": 8325
        }
      ],
      "hgvs": [
        "NG_011715.1:g.8326G>A",
        "LRG_399:g.8326G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001921"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1454,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000238682.8:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238682.3:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000238682.8:c.352+2118G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003239.5:c.352+2118G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000238682.3:n.352+2118G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003230.1:n.352+2118G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1437,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000556674.2:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502685.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000238682.7:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238682.3:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 89,
          "endIntronDirection": "-",
          "endIntronOffset": 10460,
          "referenceAllele": "C",
          "start": 89,
          "startIntronDirection": "-",
          "startIntronOffset": 10461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029669",
      "geneNCBI_id": 112752,
      "geneSymbol": "IFT43",
      "hgvs": [
        "ENST00000555677.5:n.90-10461C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 452,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000556285.1:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451110.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1481,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1481,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_003239.3:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003230.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1417,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1417,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "XM_005268028.1:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268085.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1481,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1481,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_001329938.1:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316867.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1437,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_001329939.1:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316868.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1481,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1481,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_003239.4:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003230.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1454,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_001329938.2:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316867.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1437,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_001329939.2:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316868.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "+",
          "endIntronOffset": 2118,
          "referenceAllele": "G",
          "start": 1454,
          "startIntronDirection": "+",
          "startIntronOffset": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_003239.5:c.352+2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003230.1:n.352+2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000238682.8:c.352+2118G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003239.5:c.352+2118G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000238682.3:n.352+2118G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003230.1:n.352+2118G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}