ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020126 (NFE)
Genomes Max Group AF
0.00010174 (NFE)
Exomes Max Group AF
0.00020365 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63963693C>A , CM000679.2:g.63963693C>A | GRCh38 |
| NC_000017.10:g.62041053C>A , CM000679.1:g.62041053C>A | GRCh37 |
| NC_000017.9:g.59394785C>A | NCBI36 |
| NG_011699.1:g.14226G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1585G>T MANE Select | ENSP00000396320.1:p.Gly529Cys | |
| ENST00000578147.5:c.1585G>T | ENSP00000463963.1:p.Gly529Cys | |
| NM_000334.4:c.1585G>T MANE Select | NP_000325.4:p.Gly529Cys | |
| XM_005257566.3:c.1585G>T | XP_005257623.1:p.Gly529Cys | |
| XR_934910.1:n.174+379C>A | ||
| XR_001752969.1:n.1326+379C>A | ||
| XR_001752970.1:n.278+379C>A | ||
| XR_934910.2:n.1326+379C>A |