{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15972729",
  "communityStandardTitle": [
    "NM_015192.4(PLCB1):c.177+82768G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.8213786G>A?assembly=hg19",
        "id": "chr20:g.8213786G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.8233139G>A?assembly=hg38",
        "id": "chr20:g.8233139G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6055685",
        "rs": 6055685
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-8213786-G-A?dataset=gnomad_r2_1",
        "id": "20-8213786-G-A",
        "variant": "20:8213786 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-8233139-G-A?dataset=gnomad_r3",
        "id": "20-8233139-G-A",
        "variant": "20:8233139 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-8233139-G-A?dataset=gnomad_r4",
        "id": "20-8233139-G-A",
        "variant": "20:8233139 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 8233139,
          "referenceAllele": "G",
          "start": 8233138
        }
      ],
      "hgvs": [
        "NC_000020.11:g.8233139G>A",
        "CM000682.2:g.8233139G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 8213786,
          "referenceAllele": "G",
          "start": 8213785
        }
      ],
      "hgvs": [
        "NC_000020.10:g.8213786G>A",
        "CM000682.1:g.8213786G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 8161786,
          "referenceAllele": "G",
          "start": 8161785
        }
      ],
      "hgvs": [
        "NC_000020.9:g.8161786G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105491,
          "referenceAllele": "G",
          "start": 105490
        }
      ],
      "hgvs": [
        "NG_028168.1:g.105491G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000338037.11:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338185.6:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338037.11:c.177+82768G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015192.4:c.177+82768G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338185.6:n.177+82768G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056007.1:n.177+82768G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000636319.1:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490455.1:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 82756,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 82755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000637204.1:c.59+82756G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 132,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 132,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000637919.1:c.-127+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490862.1:n.-127+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000338037.10:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338185.6:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000378637.6:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367904.2:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 691,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000378641.7:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367908.3:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000404098.6:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384001.3:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000625874.2:c.-127+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486301.1:n.-127+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 313,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000626161.1:n.313+82768G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 559,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000629992.2:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486531.1:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000630495.2:c.-127+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486655.1:n.-127+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 72,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "ENST00000630757.1:n.72+82768G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "NM_015192.3:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056007.1:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "NM_182734.2:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_877398.1:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 571,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "XM_011529199.1:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527501.1:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "XM_011529202.1:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527504.1:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "NM_015192.4:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056007.1:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338037.11:c.177+82768G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015192.4:c.177+82768G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338185.6:n.177+82768G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056007.1:n.177+82768G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 82768,
          "referenceAllele": "G",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 82767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015917",
      "geneNCBI_id": 23236,
      "geneSymbol": "PLCB1",
      "hgvs": [
        "NM_182734.3:c.177+82768G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_877398.1:n.177+82768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701115"
    }
  ],
  "type": "nucleotide"
}