Linked Data
ClinVar Variation Id:
162759
dbSNP Id:
rs144845223
ExAC:
2:71170813 C / T
gnomAD v2:
2-71170813-C-T
gnomAD v3:
2-70943683-C-T
gnomAD v4:
2-70943683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70943683C>T , CM000664.2:g.70943683C>T | GRCh38 |
| NC_000002.11:g.71170813C>T , CM000664.1:g.71170813C>T | GRCh37 |
| NC_000002.10:g.71024321C>T | NCBI36 |
| NG_008016.1:g.12816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.144C>T (ATP6V1B1) MANE Select | ENSP00000234396.4:p.Asn48= | |
| ENST00000432098.2:n.310C>T (ATP6V1B1) | ||
| ENST00000432367.6:c.348C>T (VAX2) | ||
| ENST00000454446.6:c.144C>T (ATP6V1B1) | ENSP00000408361.2:p.Asn48= | |
| ENST00000646783.1:c.180C>T (VAX2) | ||
| ENST00000234396.8:c.144C>T (ATP6V1B1) | ENSP00000234396.4:p.Asn48= | |
| ENST00000412314.5:c.144C>T (ATP6V1B1) | ENSP00000388353.1:p.Asn48= | |
| ENST00000432098.1:c.-217C>T (ATP6V1B1) | ENSP00000387599.1:n.-217C>T | |
| ENST00000432367.5:c.144C>T (ATP6V1B1) | ENSP00000405114.1:p.Asn48= | |
| ENST00000454446.5:c.195C>T (ATP6V1B1) | ENSP00000408361.1:p.Asn65= | |
| ENST00000606025.5:c.476-1250G>A | ENSP00000475641.1:n.476-1250G>A | |
| NM_001692.3:c.144C>T (ATP6V1B1) | NP_001683.2:p.Asn48= | |
| NR_110273.1:n.524-1250G>A (ATP6V1B1-AS1) | ||
| NR_110274.1:n.386-1250G>A (ATP6V1B1-AS1) | ||
| NM_001692.4:c.144C>T (ATP6V1B1) MANE Select | NP_001683.2:p.Asn48= |