{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2336421138",
  "communityStandardTitle": [
    "NM_000660.7(TGFB1):c.653G= (p.Arg218=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894720",
        "rs": 104894720
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 41342229,
          "referenceAllele": "C",
          "start": 41342228
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41342229C=",
        "CM000681.2:g.41342229C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 41848134,
          "referenceAllele": "C",
          "start": 41848133
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41848134C=",
        "CM000681.1:g.41848134C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 46539974,
          "referenceAllele": "C",
          "start": 46539973
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46539974C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16698,
          "referenceAllele": "G",
          "start": 16697
        }
      ],
      "hgvs": [
        "NG_013364.1:g.16698G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002815"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1531,
          "referenceAllele": "G",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000221930.6:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221930.4:p.Arg218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221930.6:c.653G="
          },
          "RefSeq": {
            "hgvs": "NM_000660.7:c.653G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221930.4:p.Arg218="
          },
          "RefSeq": {
            "hgvs": "NP_000651.3:p.Arg218="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000600196.2:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504008.1:p.Arg218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 2518,
          "referenceAllele": "G",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000677934.1:c.634+2518G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504769.1:n.634+2518G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1520,
          "referenceAllele": "G",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000221930.5:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221930.4:p.Arg218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "referenceAllele": "G",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000597453.1:n.184G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113,
          "referenceAllele": "G",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "ENST00000600196.1:n.113G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868699",
      "coordinates": [
        {
          "allele": "G",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.5:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Arg218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "XM_011527242.1:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525544.1:p.Arg218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868699",
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.6:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Arg218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "XM_011527242.2:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525544.1:p.Arg218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868699",
      "coordinates": [
        {
          "allele": "G",
          "end": 1531,
          "referenceAllele": "G",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011766",
      "geneNCBI_id": 7040,
      "geneSymbol": "TGFB1",
      "hgvs": [
        "NM_000660.7:c.653G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000651.3:p.Arg218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221930.6:c.653G="
          },
          "RefSeq": {
            "hgvs": "NM_000660.7:c.653G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221930.4:p.Arg218="
          },
          "RefSeq": {
            "hgvs": "NP_000651.3:p.Arg218="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}