Linked Data
ClinVar Variation Id:
228450
dbSNP Id:
rs145196117
ExAC:
2:71188116 T / G
gnomAD v2:
2-71188116-T-G
gnomAD v3:
2-70960986-T-G
gnomAD v4:
2-70960986-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70960986T>G , CM000664.2:g.70960986T>G | GRCh38 |
| NC_000002.11:g.71188116T>G , CM000664.1:g.71188116T>G | GRCh37 |
| NC_000002.10:g.71041624T>G | NCBI36 |
| NG_008016.1:g.30119T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.651T>G (ATP6V1B1) MANE Select | ENSP00000234396.4:p.His217Gln | |
| ENST00000432098.2:n.817T>G (ATP6V1B1) | ||
| ENST00000432367.6:c.855T>G (VAX2) | ||
| ENST00000454446.6:c.651T>G (ATP6V1B1) | ENSP00000408361.2:p.His217Gln | |
| ENST00000646783.1:c.687T>G (VAX2) | ||
| ENST00000234396.8:c.651T>G (ATP6V1B1) | ENSP00000234396.4:p.His217Gln | |
| ENST00000412314.5:c.651T>G (ATP6V1B1) | ENSP00000388353.1:p.His217Gln | |
| ENST00000432367.5:c.651T>G (ATP6V1B1) | ENSP00000405114.1:p.His217Gln | |
| ENST00000453130.1:c.143-12611A>C | ||
| ENST00000454446.5:c.702T>G (ATP6V1B1) | ENSP00000408361.1:p.His234Gln | |
| ENST00000495118.1:n.206T>G (ATP6V1B1) | ||
| ENST00000606025.5:c.476-18553A>C | ENSP00000475641.1:n.476-18553A>C | |
| NM_001692.3:c.651T>G (ATP6V1B1) | NP_001683.2:p.His217Gln | |
| XM_011532907.1:c.771T>G (ATP6V1B1) | XP_011531209.1:p.His257Gln | |
| NM_001692.4:c.651T>G (ATP6V1B1) MANE Select | NP_001683.2:p.His217Gln | |
| XM_011532907.2:c.771T>G (ATP6V1B1) | XP_011531209.1:p.His257Gln |