Linked Data
ClinVar Variation Id:
227180
dbSNP Id:
rs376581983
ExAC:
2:71185190 G / A
gnomAD v2:
2-71185190-G-A
gnomAD v3:
2-70958060-G-A
gnomAD v4:
2-70958060-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70958060G>A , CM000664.2:g.70958060G>A | GRCh38 |
| NC_000002.11:g.71185190G>A , CM000664.1:g.71185190G>A | GRCh37 |
| NC_000002.10:g.71038698G>A | NCBI36 |
| NG_008016.1:g.27193G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.189G>A (ATP6V1B1) MANE Select | ENSP00000234396.4:p.Ala63= | |
| ENST00000432098.2:n.355G>A (ATP6V1B1) | ||
| ENST00000432367.6:c.393G>A (VAX2) | ||
| ENST00000454446.6:c.189G>A (ATP6V1B1) | ENSP00000408361.2:p.Ala63= | |
| ENST00000646783.1:c.225G>A (VAX2) | ||
| ENST00000234396.8:c.189G>A (ATP6V1B1) | ENSP00000234396.4:p.Ala63= | |
| ENST00000412314.5:c.189G>A (ATP6V1B1) | ENSP00000388353.1:p.Ala63= | |
| ENST00000432098.1:c.-172G>A (ATP6V1B1) | ENSP00000387599.1:n.-172G>A | |
| ENST00000432367.5:c.189G>A (ATP6V1B1) | ENSP00000405114.1:p.Ala63= | |
| ENST00000453130.1:c.143-9685C>T | ||
| ENST00000454446.5:c.240G>A (ATP6V1B1) | ENSP00000408361.1:p.Ala80= | |
| ENST00000463380.1:n.290G>A (ATP6V1B1) | ||
| ENST00000606025.5:c.476-15627C>T | ENSP00000475641.1:n.476-15627C>T | |
| NM_001692.3:c.189G>A (ATP6V1B1) | NP_001683.2:p.Ala63= | |
| XM_011532907.1:c.309G>A (ATP6V1B1) | XP_011531209.1:p.Ala103= | |
| NM_001692.4:c.189G>A (ATP6V1B1) MANE Select | NP_001683.2:p.Ala63= | |
| XM_011532907.2:c.309G>A (ATP6V1B1) | XP_011531209.1:p.Ala103= |