Linked Data
dbSNP Id:
rs782230289
ExAC:
2:71185252 C / CT
gnomAD v2:
2-71185252-C-CT
gnomAD v4:
2-70958122-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70958123dup , CM000664.2:g.70958123dup | GRCh38 |
| NC_000002.11:g.71185253dup , CM000664.1:g.71185253dup | GRCh37 |
| NC_000002.10:g.71038761dup | NCBI36 |
| NG_008016.1:g.27256dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.252dup (ATP6V1B1) MANE Select | ENSP00000234396.4:p.Gly85TrpfsTer10 | |
| ENST00000432098.2:n.418dup (ATP6V1B1) | ||
| ENST00000432367.6:c.456dup (VAX2) | ||
| ENST00000454446.6:c.252dup (ATP6V1B1) | ENSP00000408361.2:p.Gly85TrpfsTer10 | |
| ENST00000646783.1:c.288dup (VAX2) | ||
| ENST00000234396.8:c.252dup (ATP6V1B1) | ENSP00000234396.4:p.Gly85TrpfsTer10 | |
| ENST00000412314.5:c.252dup (ATP6V1B1) | ENSP00000388353.1:p.Gly85TrpfsTer10 | |
| ENST00000432098.1:c.-109dup (ATP6V1B1) | ENSP00000387599.1:n.-109dup | |
| ENST00000432367.5:c.252dup (ATP6V1B1) | ENSP00000405114.1:p.Gly85TrpfsTer10 | |
| ENST00000453130.1:c.143-9748dup | ||
| ENST00000454446.5:c.303dup (ATP6V1B1) | ENSP00000408361.1:p.Gly102TrpfsTer10 | |
| ENST00000463380.1:n.353dup (ATP6V1B1) | ||
| ENST00000606025.5:c.476-15690dup | ENSP00000475641.1:n.476-15690dup | |
| NM_001692.3:c.252dup (ATP6V1B1) | NP_001683.2:p.Gly85TrpfsTer10 | |
| XM_011532907.1:c.372dup (ATP6V1B1) | XP_011531209.1:p.Gly125TrpfsTer10 | |
| NM_001692.4:c.252dup (ATP6V1B1) MANE Select | NP_001683.2:p.Gly85TrpfsTer10 | |
| XM_011532907.2:c.372dup (ATP6V1B1) | XP_011531209.1:p.Gly125TrpfsTer10 |