Linked Data
ClinVar Variation Id:
632363
dbSNP Id:
rs373621560
ExAC:
2:71185182 C / T
gnomAD v2:
2-71185182-C-T
gnomAD v3:
2-70958052-C-T
gnomAD v4:
2-70958052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70958052C>T , CM000664.2:g.70958052C>T | GRCh38 |
| NC_000002.11:g.71185182C>T , CM000664.1:g.71185182C>T | GRCh37 |
| NC_000002.10:g.71038690C>T | NCBI36 |
| NG_008016.1:g.27185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.181C>T (ATP6V1B1) MANE Select | ENSP00000234396.4:p.Gln61Ter | |
| ENST00000432098.2:n.347C>T (ATP6V1B1) | ||
| ENST00000432367.6:c.385C>T (VAX2) | ||
| ENST00000454446.6:c.181C>T (ATP6V1B1) | ENSP00000408361.2:p.Gln61Ter | |
| ENST00000646783.1:c.217C>T (VAX2) | ||
| ENST00000234396.8:c.181C>T (ATP6V1B1) | ENSP00000234396.4:p.Gln61Ter | |
| ENST00000412314.5:c.181C>T (ATP6V1B1) | ENSP00000388353.1:p.Gln61Ter | |
| ENST00000432098.1:c.-180C>T (ATP6V1B1) | ENSP00000387599.1:n.-180C>T | |
| ENST00000432367.5:c.181C>T (ATP6V1B1) | ENSP00000405114.1:p.Gln61Ter | |
| ENST00000453130.1:c.143-9677G>A | ||
| ENST00000454446.5:c.232C>T (ATP6V1B1) | ENSP00000408361.1:p.Gln78Ter | |
| ENST00000463380.1:n.282C>T (ATP6V1B1) | ||
| ENST00000606025.5:c.476-15619G>A | ENSP00000475641.1:n.476-15619G>A | |
| NM_001692.3:c.181C>T (ATP6V1B1) | NP_001683.2:p.Gln61Ter | |
| XM_011532907.1:c.301C>T (ATP6V1B1) | XP_011531209.1:p.Gln101Ter | |
| NM_001692.4:c.181C>T (ATP6V1B1) MANE Select | NP_001683.2:p.Gln61Ter | |
| XM_011532907.2:c.301C>T (ATP6V1B1) | XP_011531209.1:p.Gln101Ter |