{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119120",
  "communityStandardTitle": [
    "NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3696919",
        "active": true,
        "id": "COSM3696919"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5830027",
        "active": true,
        "id": "COSM5830027"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22906[alleleid]",
        "alleleId": 22906,
        "preferredName": "NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7867",
        "RCV": [
          "RCV000008316",
          "RCV002512900"
        ],
        "variationId": 7867
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.135392470G>A?assembly=hg19",
        "id": "chr5:g.135392470G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.136056781G>A?assembly=hg38",
        "id": "chr5:g.136056781G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909209",
        "rs": 121909209
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-136056781-G-A?dataset=gnomad_r4",
        "id": "5-136056781-G-A",
        "variant": "5:136056781 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 136056781,
          "referenceAllele": "G",
          "start": 136056780
        }
      ],
      "hgvs": [
        "NC_000005.10:g.136056781G>A",
        "CM000667.2:g.136056781G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 135392470,
          "referenceAllele": "G",
          "start": 135392469
        }
      ],
      "hgvs": [
        "NC_000005.9:g.135392470G>A",
        "CM000667.1:g.135392470G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 135420369,
          "referenceAllele": "G",
          "start": 135420368
        }
      ],
      "hgvs": [
        "NC_000005.8:g.135420369G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32887,
          "referenceAllele": "G",
          "start": 32886
        }
      ],
      "hgvs": [
        "NG_012646.1:g.32887G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000442011.7:c.1664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416330.2:p.Arg555Gln",
        "hgvsWellDefined": "ENSP00000416330.2:p.Arg555Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442011.7:c.1664G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000358.3:c.1664G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416330.2:p.Arg555Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000349.1:p.Arg555Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000442011.6:c.1664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416330.2:p.Arg555Gln",
        "hgvsWellDefined": "ENSP00000416330.2:p.Arg555Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000506699.5:n.2181G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "G",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000507018.5:c.1642G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000509485.5:c.661G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000514242.5:n.435G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000514554.5:c.816G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098237",
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NM_000358.2:c.1664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000349.1:p.Arg555Gln",
        "hgvsWellDefined": "NP_000349.1:p.Arg555Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098237",
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NM_000358.3:c.1664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000349.1:p.Arg555Gln",
        "hgvsWellDefined": "NP_000349.1:p.Arg555Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662414",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442011.7:c.1664G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000358.3:c.1664G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416330.2:p.Arg555Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000349.1:p.Arg555Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}