{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA198765297",
  "communityStandardTitle": [
    "NM_138554.5(TLR4):c.*2010G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.120478936G>T?assembly=hg19",
        "id": "chr9:g.120478936G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.117716658G>T?assembly=hg38",
        "id": "chr9:g.117716658G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7873784",
        "rs": 7873784
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-117716658-G-T?dataset=gnomad_r3",
        "id": "9-117716658-G-T",
        "variant": "9:117716658 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-117716658-G-T?dataset=gnomad_r4",
        "id": "9-117716658-G-T",
        "variant": "9:117716658 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 117716658,
          "referenceAllele": "G",
          "start": 117716657
        }
      ],
      "hgvs": [
        "NC_000009.12:g.117716658G>T",
        "CM000671.2:g.117716658G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 120478936,
          "referenceAllele": "G",
          "start": 120478935
        }
      ],
      "hgvs": [
        "NC_000009.11:g.120478936G>T",
        "CM000671.1:g.120478936G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 119518757,
          "referenceAllele": "G",
          "start": 119518756
        }
      ],
      "hgvs": [
        "NC_000009.10:g.119518757G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17477,
          "referenceAllele": "G",
          "start": 17476
        }
      ],
      "hgvs": [
        "NG_011475.1:g.17477G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17256,
          "referenceAllele": "G",
          "start": 17255
        }
      ],
      "hgvs": [
        "NG_011475.2:g.17256G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733326"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "endIntronDirection": "+",
          "endIntronOffset": 12093,
          "referenceAllele": "G",
          "start": 176,
          "startIntronDirection": "+",
          "startIntronOffset": 12092
        }
      ],
      "hgvs": [
        "ENST00000646089.2:c.93+12093G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496197.1:n.93+12093G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "+",
          "endIntronOffset": 12093,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "+",
          "startIntronOffset": 12092
        }
      ],
      "hgvs": [
        "ENST00000697624.1:n.200+12093G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "endIntronDirection": "+",
          "endIntronOffset": 12093,
          "referenceAllele": "G",
          "start": 117,
          "startIntronDirection": "+",
          "startIntronOffset": 12092
        }
      ],
      "hgvs": [
        "ENST00000697625.1:c.93+12093G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513362.1:n.93+12093G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "endIntronDirection": "+",
          "endIntronOffset": 12093,
          "referenceAllele": "G",
          "start": 376,
          "startIntronDirection": "+",
          "startIntronOffset": 12092
        }
      ],
      "hgvs": [
        "ENST00000697636.1:c.93+12093G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513366.1:n.93+12093G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "endIntronDirection": "+",
          "endIntronOffset": 12093,
          "referenceAllele": "G",
          "start": 163,
          "startIntronDirection": "+",
          "startIntronOffset": 12092
        }
      ],
      "hgvs": [
        "ENST00000697637.1:c.93+12093G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513367.1:n.93+12093G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 7929,
          "referenceAllele": "G",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 7928
        }
      ],
      "hgvs": [
        "ENST00000697664.1:c.140+7929G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513389.1:n.140+7929G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "endIntronDirection": "+",
          "endIntronOffset": 12093,
          "referenceAllele": "G",
          "start": 203,
          "startIntronDirection": "+",
          "startIntronOffset": 12092
        }
      ],
      "hgvs": [
        "ENST00000697665.1:c.93+12093G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513390.1:n.93+12093G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 7929,
          "referenceAllele": "G",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 7928
        }
      ],
      "hgvs": [
        "ENST00000697666.1:c.140+7929G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513391.1:n.140+7929G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4600,
          "referenceAllele": "G",
          "start": 4599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011850",
      "geneNCBI_id": 7099,
      "geneSymbol": "TLR4",
      "hgvs": [
        "ENST00000355622.8:c.*2010G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363089.5:n.*2010G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355622.8:c.*2010G>T"
          },
          "RefSeq": {
            "hgvs": "NM_138554.5:c.*2010G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363089.5:n.*2010G>T"
          },
          "RefSeq": {
            "hgvs": "NP_612564.1:n.*2010G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "endIntronDirection": "+",
          "endIntronOffset": 7929,
          "referenceAllele": "G",
          "start": 576,
          "startIntronDirection": "+",
          "startIntronOffset": 7928
        }
      ],
      "hgvs": [
        "ENST00000642985.1:c.260+7929G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493686.1:n.260+7929G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "endIntronDirection": "+",
          "endIntronOffset": 12093,
          "referenceAllele": "G",
          "start": 176,
          "startIntronDirection": "+",
          "startIntronOffset": 12092
        }
      ],
      "hgvs": [
        "ENST00000646089.1:c.93+12093G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496197.1:n.93+12093G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "endIntronDirection": "+",
          "endIntronOffset": 12093,
          "referenceAllele": "G",
          "start": 163,
          "startIntronDirection": "+",
          "startIntronOffset": 12092
        }
      ],
      "hgvs": [
        "ENST00000665764.1:c.93+12093G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499745.1:n.93+12093G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4631,
          "referenceAllele": "G",
          "start": 4630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011850",
      "geneNCBI_id": 7099,
      "geneSymbol": "TLR4",
      "hgvs": [
        "ENST00000355622.6:c.*2010G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363089.5:n.*2010G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4948,
          "referenceAllele": "G",
          "start": 4947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011850",
      "geneNCBI_id": 7099,
      "geneSymbol": "TLR4",
      "hgvs": [
        "NM_003266.3:c.*2010G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003257.1:n.*2010G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4828,
          "referenceAllele": "G",
          "start": 4827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011850",
      "geneNCBI_id": 7099,
      "geneSymbol": "TLR4",
      "hgvs": [
        "NM_138554.4:c.*2010G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612564.1:n.*2010G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4661,
          "referenceAllele": "G",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011850",
      "geneNCBI_id": 7099,
      "geneSymbol": "TLR4",
      "hgvs": [
        "NM_138557.2:c.*2010G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612567.1:n.*2010G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4600,
          "referenceAllele": "G",
          "start": 4599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011850",
      "geneNCBI_id": 7099,
      "geneSymbol": "TLR4",
      "hgvs": [
        "NM_138554.5:c.*2010G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612564.1:n.*2010G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355622.8:c.*2010G>T"
          },
          "RefSeq": {
            "hgvs": "NM_138554.5:c.*2010G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363089.5:n.*2010G>T"
          },
          "RefSeq": {
            "hgvs": "NP_612564.1:n.*2010G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4720,
          "referenceAllele": "G",
          "start": 4719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011850",
      "geneNCBI_id": 7099,
      "geneSymbol": "TLR4",
      "hgvs": [
        "NM_003266.4:c.*2010G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003257.1:n.*2010G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4433,
          "referenceAllele": "G",
          "start": 4432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011850",
      "geneNCBI_id": 7099,
      "geneSymbol": "TLR4",
      "hgvs": [
        "NM_138557.3:c.*2010G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612567.1:n.*2010G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699750"
    }
  ],
  "type": "nucleotide"
}