{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA597048762",
  "communityStandardTitle": [
    "NM_019009.4(TOLLIP):c.33+2345C>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.1328351G>C?assembly=hg19",
        "id": "chr11:g.1328351G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.1307121G>C?assembly=hg38",
        "id": "chr11:g.1307121G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5743867",
        "rs": 5743867
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-1328351-G-C?dataset=gnomad_r2_1",
        "id": "11-1328351-G-C",
        "variant": "11:1328351 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-1307121-G-C?dataset=gnomad_r3",
        "id": "11-1307121-G-C",
        "variant": "11:1307121 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-1307121-G-C?dataset=gnomad_r4",
        "id": "11-1307121-G-C",
        "variant": "11:1307121 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 1307121,
          "referenceAllele": "G",
          "start": 1307120
        }
      ],
      "hgvs": [
        "NC_000011.10:g.1307121G>C",
        "CM000673.2:g.1307121G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 1328351,
          "referenceAllele": "G",
          "start": 1328350
        }
      ],
      "hgvs": [
        "NC_000011.9:g.1328351G>C",
        "CM000673.1:g.1328351G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 1284927,
          "referenceAllele": "G",
          "start": 1284926
        }
      ],
      "hgvs": [
        "NC_000011.8:g.1284927G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000317204.11:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314733.5:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000317204.11:c.33+2345C>G"
          },
          "RefSeq": {
            "hgvs": "NM_019009.4:c.33+2345C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314733.5:n.33+2345C>G"
          },
          "RefSeq": {
            "hgvs": "NP_061882.2:n.33+2345C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 2366,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000263646.11:c.12+2366C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263646.6:n.12+2366C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000317204.10:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314733.5:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 154,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000525159.5:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432668.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000527085.1:n.179+2345C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 132,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000527638.1:n.132+2345C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000527746.5:n.125+2345C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000527938.5:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432778.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 118,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 118,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000530506.5:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436393.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000530541.1:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434494.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000532551.1:n.158+2345C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_019009.3:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_061882.2:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318512.1:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305441.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318515.1:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305444.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318516.1:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305445.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "XR_001747910.2:n.158+2345C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_019009.4:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_061882.2:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000317204.11:c.33+2345C>G"
          },
          "RefSeq": {
            "hgvs": "NM_019009.4:c.33+2345C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314733.5:n.33+2345C>G"
          },
          "RefSeq": {
            "hgvs": "NP_061882.2:n.33+2345C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318512.2:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305441.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318515.2:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305444.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 2345,
          "referenceAllele": "C",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318516.2:c.33+2345C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305445.1:n.33+2345C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684555"
    }
  ],
  "type": "nucleotide"
}