{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14737558",
  "communityStandardTitle": [
    "NM_000660.7(TGFB1):c.860+1916T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41845872A>G?assembly=hg19",
        "id": "chr19:g.41845872A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41339967A>G?assembly=hg38",
        "id": "chr19:g.41339967A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8110090",
        "rs": 8110090
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41845872-A-G?dataset=gnomad_r2_1",
        "id": "19-41845872-A-G",
        "variant": "19:41845872 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41339967-A-G?dataset=gnomad_r3",
        "id": "19-41339967-A-G",
        "variant": "19:41339967 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41339967-A-G?dataset=gnomad_r4",
        "id": "19-41339967-A-G",
        "variant": "19:41339967 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41339967,
          "referenceAllele": "A",
          "start": 41339966
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41339967A>G",
        "CM000681.2:g.41339967A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41845872,
          "referenceAllele": "A",
          "start": 41845871
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41845872A>G",
        "CM000681.1:g.41845872A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 46537712,
          "referenceAllele": "A",
          "start": 46537711
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46537712A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18960,
          "referenceAllele": "T",
          "start": 18959
        }
      ],
      "hgvs": [
        "NG_013364.1:g.18960T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1738,
          "endIntronDirection": "+",
          "endIntronOffset": 1916,
          "referenceAllele": "T",
          "start": 1738,
          "startIntronDirection": "+",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000221930.6:c.860+1916T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221930.4:n.860+1916T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221930.6:c.860+1916T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000660.7:c.860+1916T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221930.4:n.860+1916T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000651.3:n.860+1916T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 712,
          "endIntronDirection": "+",
          "endIntronOffset": 2203,
          "referenceAllele": "T",
          "start": 712,
          "startIntronDirection": "+",
          "startIntronOffset": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000600196.2:c.712+2203T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504008.1:n.712+2203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 4780,
          "referenceAllele": "T",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 4779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000677934.1:c.634+4780T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504769.1:n.634+4780T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1727,
          "endIntronDirection": "+",
          "endIntronOffset": 1916,
          "referenceAllele": "T",
          "start": 1727,
          "startIntronDirection": "+",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000221930.5:c.860+1916T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221930.4:n.860+1916T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 1916,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000598758.5:c.148+1916T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "endIntronDirection": "+",
          "endIntronOffset": 2203,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "+",
          "startIntronOffset": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000600196.1:n.172+2203T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "+",
          "endIntronOffset": 1916,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "+",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.5:c.860+1916T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:n.860+1916T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 1916,
          "referenceAllele": "T",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "XM_011527242.1:c.863+1916T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525544.1:n.863+1916T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1699,
          "endIntronDirection": "+",
          "endIntronOffset": 1916,
          "referenceAllele": "T",
          "start": 1699,
          "startIntronDirection": "+",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.6:c.860+1916T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:n.860+1916T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1061,
          "endIntronDirection": "+",
          "endIntronOffset": 1916,
          "referenceAllele": "T",
          "start": 1061,
          "startIntronDirection": "+",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "XM_011527242.2:c.863+1916T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525544.1:n.863+1916T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1738,
          "endIntronDirection": "+",
          "endIntronOffset": 1916,
          "referenceAllele": "T",
          "start": 1738,
          "startIntronDirection": "+",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.7:c.860+1916T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:n.860+1916T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221930.6:c.860+1916T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000660.7:c.860+1916T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221930.4:n.860+1916T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000651.3:n.860+1916T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}