Linked Data
ClinVar Variation Id:
178290
dbSNP Id:
rs142905621
ExAC:
2:71192103 G / A
gnomAD v2:
2-71192103-G-A
gnomAD v3:
2-70964973-G-A
gnomAD v4:
2-70964973-G-A
PubMed:
PMID:12579397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70964973G>A , CM000664.2:g.70964973G>A | GRCh38 |
| NC_000002.11:g.71192103G>A , CM000664.1:g.71192103G>A | GRCh37 |
| NC_000002.10:g.71045611G>A | NCBI36 |
| NG_008016.1:g.34106G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.1394G>A (ATP6V1B1) MANE Select | ENSP00000234396.4:p.Arg465His | |
| ENST00000432367.6:c.1447G>A (VAX2) | ||
| ENST00000433895.2:c.326G>A (ATP6V1B1) | ENSP00000407840.2:p.Arg109His | |
| ENST00000234396.8:c.1394G>A (ATP6V1B1) | ENSP00000234396.4:p.Arg465His | |
| ENST00000412314.5:c.1343G>A (ATP6V1B1) | ENSP00000388353.1:p.Arg448His | |
| ENST00000432367.5:c.*672G>A (ATP6V1B1) | ENSP00000405114.1:n.*672G>A | |
| ENST00000433895.1:c.209G>A (ATP6V1B1) | ENSP00000407840.1:p.Arg70His | |
| ENST00000453130.1:c.143-16598C>T | ||
| ENST00000606025.5:c.476-22540C>T | ENSP00000475641.1:n.476-22540C>T | |
| NM_001692.3:c.1394G>A (ATP6V1B1) | NP_001683.2:p.Arg465His | |
| XM_011532907.1:c.1514G>A (ATP6V1B1) | XP_011531209.1:p.Arg505His | |
| NM_001692.4:c.1394G>A (ATP6V1B1) MANE Select | NP_001683.2:p.Arg465His | |
| XM_011532907.2:c.1514G>A (ATP6V1B1) | XP_011531209.1:p.Arg505His |