Linked Data
dbSNP Id:
rs782459963
ExAC:
2:71185261 A / G
gnomAD v2:
2-71185261-A-G
gnomAD v4:
2-70958131-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70958131A>G , CM000664.2:g.70958131A>G | GRCh38 |
| NC_000002.11:g.71185261A>G , CM000664.1:g.71185261A>G | GRCh37 |
| NC_000002.10:g.71038769A>G | NCBI36 |
| NG_008016.1:g.27264A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.260A>G (ATP6V1B1) MANE Select | ENSP00000234396.4:p.Lys87Arg | |
| ENST00000432098.2:n.426A>G (ATP6V1B1) | ||
| ENST00000432367.6:c.464A>G (VAX2) | ||
| ENST00000454446.6:c.260A>G (ATP6V1B1) | ENSP00000408361.2:p.Lys87Arg | |
| ENST00000646783.1:c.296A>G (VAX2) | ||
| ENST00000234396.8:c.260A>G (ATP6V1B1) | ENSP00000234396.4:p.Lys87Arg | |
| ENST00000412314.5:c.260A>G (ATP6V1B1) | ENSP00000388353.1:p.Lys87Arg | |
| ENST00000432098.1:c.-101A>G (ATP6V1B1) | ENSP00000387599.1:n.-101A>G | |
| ENST00000432367.5:c.260A>G (ATP6V1B1) | ENSP00000405114.1:p.Lys87Arg | |
| ENST00000453130.1:c.143-9756T>C | ||
| ENST00000454446.5:c.311A>G (ATP6V1B1) | ENSP00000408361.1:p.Lys104Arg | |
| ENST00000463380.1:n.361A>G (ATP6V1B1) | ||
| ENST00000606025.5:c.476-15698T>C | ENSP00000475641.1:n.476-15698T>C | |
| NM_001692.3:c.260A>G (ATP6V1B1) | NP_001683.2:p.Lys87Arg | |
| XM_011532907.1:c.380A>G (ATP6V1B1) | XP_011531209.1:p.Lys127Arg | |
| NM_001692.4:c.260A>G (ATP6V1B1) MANE Select | NP_001683.2:p.Lys87Arg | |
| XM_011532907.2:c.380A>G (ATP6V1B1) | XP_011531209.1:p.Lys127Arg |