{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA175274",
  "communityStandardTitle": [
    "NM_001692.4(ATP6V1B1):c.688-7T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176755[alleleid]",
        "alleleId": 176755,
        "preferredName": "NM_001692.4(ATP6V1B1):c.688-7T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162763",
        "RCV": [
          "RCV000150170",
          "RCV000840683",
          "RCV001139489"
        ],
        "variationId": 162763
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71188719-T-C",
        "id": "2-71188719-T-C",
        "variant": "2:71188719 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71188719T>C?assembly=hg19",
        "id": "chr2:g.71188719T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.70961589T>C?assembly=hg38",
        "id": "chr2:g.70961589T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193240706",
        "rs": 193240706
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71188719-T-C?dataset=gnomad_r2_1",
        "id": "2-71188719-T-C",
        "variant": "2:71188719 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-70961589-T-C?dataset=gnomad_r3",
        "id": "2-70961589-T-C",
        "variant": "2:70961589 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-70961589-T-C?dataset=gnomad_r4",
        "id": "2-70961589-T-C",
        "variant": "2:70961589 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 70961589,
          "referenceAllele": "T",
          "start": 70961588
        }
      ],
      "hgvs": [
        "NC_000002.12:g.70961589T>C",
        "CM000664.2:g.70961589T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71188719,
          "referenceAllele": "T",
          "start": 71188718
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71188719T>C",
        "CM000664.1:g.71188719T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71042227,
          "referenceAllele": "T",
          "start": 71042226
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71042227T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30722,
          "referenceAllele": "T",
          "start": 30721
        }
      ],
      "hgvs": [
        "NG_008016.1:g.30722T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000776"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 742,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000234396.10:c.688-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234396.4:n.688-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740954",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234396.10:c.688-7T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001692.4:c.688-7T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234396.4:n.688-7T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001683.2:n.688-7T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 891,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012661",
      "geneNCBI_id": 25806,
      "geneSymbol": "VAX2",
      "hgvs": [
        "ENST00000432367.6:c.892-7T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000454446.6:c.709-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408361.2:n.709-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 723,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012661",
      "geneNCBI_id": 25806,
      "geneSymbol": "VAX2",
      "hgvs": [
        "ENST00000646783.1:c.724-7T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 760,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 760,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000234396.8:c.688-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234396.4:n.688-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 721,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000412314.5:c.688-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388353.1:n.688-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 765,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 765,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000432367.5:c.713-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405114.1:n.713-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "endIntronDirection": "-",
          "endIntronOffset": 13213,
          "referenceAllele": "A",
          "start": 142,
          "startIntronDirection": "-",
          "startIntronOffset": 13214
        }
      ],
      "hgvs": [
        "ENST00000453130.1:c.143-13214A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 242,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000495118.1:n.243-7T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 19155,
          "referenceAllele": "A",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 19156
        }
      ],
      "hgvs": [
        "ENST00000606025.5:c.476-19156A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475641.1:n.476-19156A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 774,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 774,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NM_001692.3:c.688-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001683.2:n.688-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 822,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 822,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "XM_011532907.1:c.808-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531209.1:n.808-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 742,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NM_001692.4:c.688-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001683.2:n.688-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234396.10:c.688-7T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001692.4:c.688-7T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234396.4:n.688-7T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001683.2:n.688-7T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 986,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "XM_011532907.2:c.808-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531209.1:n.808-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551020"
    }
  ],
  "type": "nucleotide"
}