{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119121",
  "communityStandardTitle": [
    "NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3769970",
        "active": true,
        "id": "COSM3769970"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5421291",
        "active": true,
        "id": "COSM5421291"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22907[alleleid]",
        "alleleId": 22907,
        "preferredName": "NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7868",
        "RCV": [
          "RCV000008317",
          "RCV002466395",
          "RCV002512901"
        ],
        "variationId": 7868
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-135382095-C-T",
        "id": "5-135382095-C-T",
        "variant": "5:135382095 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.135382095C>T?assembly=hg19",
        "id": "chr5:g.135382095C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.136046406C>T?assembly=hg38",
        "id": "chr5:g.136046406C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909210",
        "rs": 121909210
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-135382095-C-T?dataset=gnomad_r2_1",
        "id": "5-135382095-C-T",
        "variant": "5:135382095 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-136046406-C-T?dataset=gnomad_r3",
        "id": "5-136046406-C-T",
        "variant": "5:136046406 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-136046406-C-T?dataset=gnomad_r4",
        "id": "5-136046406-C-T",
        "variant": "5:136046406 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 136046406,
          "referenceAllele": "C",
          "start": 136046405
        }
      ],
      "hgvs": [
        "NC_000005.10:g.136046406C>T",
        "CM000667.2:g.136046406C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 135382095,
          "referenceAllele": "C",
          "start": 135382094
        }
      ],
      "hgvs": [
        "NC_000005.9:g.135382095C>T",
        "CM000667.1:g.135382095C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 135409994,
          "referenceAllele": "C",
          "start": 135409993
        }
      ],
      "hgvs": [
        "NC_000005.8:g.135409994C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22512,
          "referenceAllele": "C",
          "start": 22511
        }
      ],
      "hgvs": [
        "NG_012646.1:g.22512C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000442011.7:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416330.2:p.Arg124Cys",
        "hgvsWellDefined": "ENSP00000416330.2:p.Arg124Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442011.7:c.370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000358.3:c.370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416330.2:p.Arg124Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000349.1:p.Arg124Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000442011.6:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416330.2:p.Arg124Cys",
        "hgvsWellDefined": "ENSP00000416330.2:p.Arg124Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000504185.5:n.527C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000506699.5:n.435C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000507018.5:c.287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000515433.1:n.662C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098187",
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NM_000358.2:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000349.1:p.Arg124Cys",
        "hgvsWellDefined": "NP_000349.1:p.Arg124Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098187",
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NM_000358.3:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000349.1:p.Arg124Cys",
        "hgvsWellDefined": "NP_000349.1:p.Arg124Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662414",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442011.7:c.370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000358.3:c.370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416330.2:p.Arg124Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000349.1:p.Arg124Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}