Linked Data
ClinVar Variation Id:
1078016
ClinVar RCV Id:
RCV001392809
dbSNP Id:
rs782691539
ExAC:
2:71185223 T / C
gnomAD v2:
2-71185223-T-C
gnomAD v4:
2-70958093-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70958093T>C , CM000664.2:g.70958093T>C | GRCh38 |
| NC_000002.11:g.71185223T>C , CM000664.1:g.71185223T>C | GRCh37 |
| NC_000002.10:g.71038731T>C | NCBI36 |
| NG_008016.1:g.27226T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.222T>C (ATP6V1B1) MANE Select | ENSP00000234396.4:p.Thr74= | |
| ENST00000432098.2:n.388T>C (ATP6V1B1) | ||
| ENST00000432367.6:c.426T>C (VAX2) | ||
| ENST00000454446.6:c.222T>C (ATP6V1B1) | ENSP00000408361.2:p.Thr74= | |
| ENST00000646783.1:c.258T>C (VAX2) | ||
| ENST00000234396.8:c.222T>C (ATP6V1B1) | ENSP00000234396.4:p.Thr74= | |
| ENST00000412314.5:c.222T>C (ATP6V1B1) | ENSP00000388353.1:p.Thr74= | |
| ENST00000432098.1:c.-139T>C (ATP6V1B1) | ENSP00000387599.1:n.-139T>C | |
| ENST00000432367.5:c.222T>C (ATP6V1B1) | ENSP00000405114.1:p.Thr74= | |
| ENST00000453130.1:c.143-9718A>G | ||
| ENST00000454446.5:c.273T>C (ATP6V1B1) | ENSP00000408361.1:p.Thr91= | |
| ENST00000463380.1:n.323T>C (ATP6V1B1) | ||
| ENST00000606025.5:c.476-15660A>G | ENSP00000475641.1:n.476-15660A>G | |
| NM_001692.3:c.222T>C (ATP6V1B1) | NP_001683.2:p.Thr74= | |
| XM_011532907.1:c.342T>C (ATP6V1B1) | XP_011531209.1:p.Thr114= | |
| NM_001692.4:c.222T>C (ATP6V1B1) MANE Select | NP_001683.2:p.Thr74= | |
| XM_011532907.2:c.342T>C (ATP6V1B1) | XP_011531209.1:p.Thr114= |