{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA133780",
  "communityStandardTitle": [
    "NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53393[alleleid]",
        "alleleId": 53393,
        "preferredName": "NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44226",
        "RCV": [
          "RCV000037205",
          "RCV000260310",
          "RCV000888129",
          "RCV003904914"
        ],
        "variationId": 44226
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71185265-G-A",
        "id": "2-71185265-G-A",
        "variant": "2:71185265 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71185265G>A?assembly=hg19",
        "id": "chr2:g.71185265G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.70958135G>A?assembly=hg38",
        "id": "chr2:g.70958135G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147576439",
        "rs": 147576439
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71185265-G-A?dataset=gnomad_r2_1",
        "id": "2-71185265-G-A",
        "variant": "2:71185265 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-70958135-G-A?dataset=gnomad_r3",
        "id": "2-70958135-G-A",
        "variant": "2:70958135 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-70958135-G-A?dataset=gnomad_r4",
        "id": "2-70958135-G-A",
        "variant": "2:70958135 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 70958135,
          "referenceAllele": "G",
          "start": 70958134
        }
      ],
      "hgvs": [
        "NC_000002.12:g.70958135G>A",
        "CM000664.2:g.70958135G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71185265,
          "referenceAllele": "G",
          "start": 71185264
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71185265G>A",
        "CM000664.1:g.71185265G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71038773,
          "referenceAllele": "G",
          "start": 71038772
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71038773G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27268,
          "referenceAllele": "G",
          "start": 27267
        }
      ],
      "hgvs": [
        "NG_008016.1:g.27268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000776"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000234396.10:c.264G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234396.4:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740954",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234396.10:c.264G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001692.4:c.264G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234396.4:p.Ala88="
          },
          "RefSeq": {
            "hgvs": "NP_001683.2:p.Ala88="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000432098.2:n.430G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012661",
      "geneNCBI_id": 25806,
      "geneSymbol": "VAX2",
      "hgvs": [
        "ENST00000432367.6:c.468G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "referenceAllele": "G",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000454446.6:c.264G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408361.2:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012661",
      "geneNCBI_id": 25806,
      "geneSymbol": "VAX2",
      "hgvs": [
        "ENST00000646783.1:c.300G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000234396.8:c.264G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234396.4:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000412314.5:c.264G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388353.1:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "referenceAllele": "G",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000432098.1:c.-97G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387599.1:n.-97G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000432367.5:c.264G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405114.1:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "endIntronDirection": "-",
          "endIntronOffset": 9759,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "-",
          "startIntronOffset": 9760
        }
      ],
      "hgvs": [
        "ENST00000453130.1:c.143-9760C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000454446.5:c.315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408361.1:p.Ala105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000463380.1:n.365G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 15701,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 15702
        }
      ],
      "hgvs": [
        "ENST00000606025.5:c.476-15702C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475641.1:n.476-15702C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399637"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829338260",
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NM_001692.3:c.264G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001683.2:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "XM_011532907.1:c.384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531209.1:p.Ala128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829338260",
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NM_001692.4:c.264G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001683.2:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234396.10:c.264G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001692.4:c.264G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234396.4:p.Ala88="
          },
          "RefSeq": {
            "hgvs": "NP_001683.2:p.Ala88="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "XM_011532907.2:c.384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531209.1:p.Ala128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551020"
    }
  ],
  "type": "nucleotide"
}