{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1584798370",
  "communityStandardTitle": [
    "NM_000358.3(TGFBI):c.1663C= (p.Arg555=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909208",
        "rs": 121909208
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 136056780,
          "referenceAllele": "C",
          "start": 136056779
        }
      ],
      "hgvs": [
        "NC_000005.10:g.136056780C=",
        "CM000667.2:g.136056780C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 135392469,
          "referenceAllele": "C",
          "start": 135392468
        }
      ],
      "hgvs": [
        "NC_000005.9:g.135392469C=",
        "CM000667.1:g.135392469C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 135420368,
          "referenceAllele": "C",
          "start": 135420367
        }
      ],
      "hgvs": [
        "NC_000005.8:g.135420368C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32886,
          "referenceAllele": "C",
          "start": 32885
        }
      ],
      "hgvs": [
        "NG_012646.1:g.32886C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1731,
          "referenceAllele": "C",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000442011.7:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416330.2:p.Arg555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442011.7:c.1663C="
          },
          "RefSeq": {
            "hgvs": "NM_000358.3:c.1663C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416330.2:p.Arg555="
          },
          "RefSeq": {
            "hgvs": "NP_000349.1:p.Arg555="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000442011.6:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416330.2:p.Arg555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2180,
          "referenceAllele": "C",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000506699.5:n.2180C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000507018.5:c.1641C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000509485.5:c.660C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000514242.5:n.434C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000514554.5:c.815C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948392",
      "coordinates": [
        {
          "allele": "C",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NM_000358.2:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000349.1:p.Arg555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948392",
      "coordinates": [
        {
          "allele": "C",
          "end": 1731,
          "referenceAllele": "C",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NM_000358.3:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000349.1:p.Arg555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662414",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442011.7:c.1663C="
          },
          "RefSeq": {
            "hgvs": "NM_000358.3:c.1663C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416330.2:p.Arg555="
          },
          "RefSeq": {
            "hgvs": "NP_000349.1:p.Arg555="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}