{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12500164",
  "communityStandardTitle": [
    "NM_000600.5(IL6):c.210+180A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.22767433A>G?assembly=hg19",
        "id": "chr7:g.22767433A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.22727814A>G?assembly=hg38",
        "id": "chr7:g.22727814A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2069832",
        "rs": 2069832
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-22767433-A-G?dataset=gnomad_r2_1",
        "id": "7-22767433-A-G",
        "variant": "7:22767433 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-22727814-A-G?dataset=gnomad_r3",
        "id": "7-22727814-A-G",
        "variant": "7:22727814 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-22727814-A-G?dataset=gnomad_r4",
        "id": "7-22727814-A-G",
        "variant": "7:22727814 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 22727814,
          "referenceAllele": "A",
          "start": 22727813
        }
      ],
      "hgvs": [
        "NC_000007.14:g.22727814A>G",
        "CM000669.2:g.22727814A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 22767433,
          "referenceAllele": "A",
          "start": 22767432
        }
      ],
      "hgvs": [
        "NC_000007.13:g.22767433A>G",
        "CM000669.1:g.22767433A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 22733958,
          "referenceAllele": "A",
          "start": 22733957
        }
      ],
      "hgvs": [
        "NC_000007.12:g.22733958A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5668,
          "referenceAllele": "A",
          "start": 5667
        }
      ],
      "hgvs": [
        "NG_011640.1:g.5668A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001874"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "referenceAllele": "A",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000464710.2:n.638A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000258743.10:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258743.5:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741930",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258743.10:c.210+180A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000600.5:c.210+180A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258743.5:n.210+180A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000591.1:n.210+180A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 326,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000258743.9:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258743.5:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000401630.7:c.141+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384928.3:n.141+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 135,
          "endIntronDirection": "+",
          "endIntronOffset": 533,
          "referenceAllele": "A",
          "start": 135,
          "startIntronDirection": "+",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000401651.5:c.-19+533A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385718.1:n.-19+533A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 669,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000404625.5:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385675.1:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 233,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 233,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000406575.1:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385227.1:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 68,
          "endIntronDirection": "+",
          "endIntronOffset": 533,
          "referenceAllele": "A",
          "start": 68,
          "startIntronDirection": "+",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000407492.5:c.-19+533A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385043.1:n.-19+533A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 326,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000426291.5:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405150.1:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "ENST00000485300.1:n.435+180A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 326,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "NM_000600.3:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000591.1:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 555,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "XM_005249745.3:c.372+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249802.1:n.372+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1111,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 1111,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "XM_011515390.1:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513692.1:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 120,
          "endIntronDirection": "+",
          "endIntronOffset": 533,
          "referenceAllele": "A",
          "start": 120,
          "startIntronDirection": "+",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "XM_011515391.1:c.-19+533A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513693.1:n.-19+533A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "NM_000600.4:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000591.1:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 140,
          "endIntronDirection": "+",
          "endIntronOffset": 533,
          "referenceAllele": "A",
          "start": 140,
          "startIntronDirection": "+",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "NM_001318095.1:c.-19+533A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305024.1:n.-19+533A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "XM_005249745.5:c.372+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249802.1:n.372+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "XM_011515390.2:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513692.1:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "NM_000600.5:c.210+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000591.1:n.210+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258743.10:c.210+180A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000600.5:c.210+180A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258743.5:n.210+180A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000591.1:n.210+180A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 533,
          "referenceAllele": "A",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "NM_001318095.2:c.-19+533A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305024.1:n.-19+533A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "A",
          "start": 204,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006018",
      "geneNCBI_id": 3569,
      "geneSymbol": "IL6",
      "hgvs": [
        "NM_001371096.1:c.141+180A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358025.1:n.141+180A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692636"
    }
  ],
  "type": "nucleotide"
}