{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA249355",
  "communityStandardTitle": [
    "NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3756816"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47506[alleleid]",
        "alleleId": 47506,
        "preferredName": "NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38903",
        "RCV": [
          "RCV000203155",
          "RCV001522480"
        ],
        "variationId": 38903
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-41847860-G-A",
        "id": "19-41847860-G-A",
        "variant": "19:41847860 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41847860G>A?assembly=hg19",
        "id": "chr19:g.41847860G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41341955G>A?assembly=hg38",
        "id": "chr19:g.41341955G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800472",
        "rs": 1800472
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41847860-G-A?dataset=gnomad_r2_1",
        "id": "19-41847860-G-A",
        "variant": "19:41847860 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41341955-G-A?dataset=gnomad_r3",
        "id": "19-41341955-G-A",
        "variant": "19:41341955 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41341955-G-A?dataset=gnomad_r4",
        "id": "19-41341955-G-A",
        "variant": "19:41341955 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41341955,
          "referenceAllele": "G",
          "start": 41341954
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41341955G>A",
        "CM000681.2:g.41341955G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41847860,
          "referenceAllele": "G",
          "start": 41847859
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41847860G>A",
        "CM000681.1:g.41847860G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 46539700,
          "referenceAllele": "G",
          "start": 46539699
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46539700G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16972,
          "referenceAllele": "C",
          "start": 16971
        }
      ],
      "hgvs": [
        "NG_013364.1:g.16972C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1666,
          "referenceAllele": "C",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000221930.6:c.788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221930.4:p.Thr263Ile",
        "hgvsWellDefined": "ENSP00000221930.4:p.Thr263Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221930.6:c.788C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000660.7:c.788C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221930.4:p.Thr263Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000651.3:p.Thr263Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "endIntronDirection": "+",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 712,
          "startIntronDirection": "+",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000600196.2:c.712+215C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504008.1:n.712+215C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 2792,
          "referenceAllele": "C",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 2791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000677934.1:c.634+2792C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504769.1:n.634+2792C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000221930.5:c.788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221930.4:p.Thr263Ile",
        "hgvsWellDefined": "ENSP00000221930.4:p.Thr263Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "C",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000598758.5:c.76C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "+",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 172,
          "startIntronDirection": "+",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000600196.1:n.172+215C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA249356",
      "coordinates": [
        {
          "allele": "T",
          "end": 1677,
          "referenceAllele": "C",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.5:c.788C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Thr263Ile",
        "hgvsWellDefined": "NP_000651.3:p.Thr263Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "XM_011527242.1:c.791C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525544.1:p.Thr264Ile",
        "hgvsWellDefined": "XP_011525544.1:p.Thr264Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA249356",
      "coordinates": [
        {
          "allele": "T",
          "end": 1627,
          "referenceAllele": "C",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.6:c.788C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Thr263Ile",
        "hgvsWellDefined": "NP_000651.3:p.Thr263Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "XM_011527242.2:c.791C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525544.1:p.Thr264Ile",
        "hgvsWellDefined": "XP_011525544.1:p.Thr264Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA249356",
      "coordinates": [
        {
          "allele": "T",
          "end": 1666,
          "referenceAllele": "C",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.7:c.788C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Thr263Ile",
        "hgvsWellDefined": "NP_000651.3:p.Thr263Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221930.6:c.788C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000660.7:c.788C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221930.4:p.Thr263Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000651.3:p.Thr263Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}