ClinVar Variation:
COSMIC:
COSM6432489
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00197267 (AFR)
Genomes Max Group AF
0.00186866 (AFR)
Exomes Max Group AF
0.00185543 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63963702C>T , CM000679.2:g.63963702C>T | GRCh38 |
| NC_000017.10:g.62041062C>T , CM000679.1:g.62041062C>T | GRCh37 |
| NC_000017.9:g.59394794C>T | NCBI36 |
| NG_011699.1:g.14217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1576G>A MANE Select | ENSP00000396320.1:p.Gly526Arg | |
| ENST00000578147.5:c.1576G>A | ENSP00000463963.1:p.Gly526Arg | |
| NM_000334.4:c.1576G>A MANE Select | NP_000325.4:p.Gly526Arg | |
| XM_005257566.3:c.1576G>A | XP_005257623.1:p.Gly526Arg | |
| XR_934910.1:n.174+388C>T | ||
| XR_001752969.1:n.1327-382C>T | ||
| XR_001752970.1:n.279-382C>T | ||
| XR_934910.2:n.1326+388C>T |