gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75246456 (AFR)
Genomes Max Group AF
0.75246456 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22035352G>A , CM000663.2:g.22035352G>A | GRCh38 |
| NC_000001.10:g.22361845G>A , CM000663.1:g.22361845G>A | GRCh37 |
| NC_000001.9:g.22234432G>A | NCBI36 |
| NG_047042.3:g.14842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695855.1:c.-51+9980G>A | ENSP00000512220.1:n.-51+9980G>A | |
| ENST00000695856.1:c.-51+9713G>A | ENSP00000512221.1:n.-51+9713G>A | |
| ENST00000648594.1:c.-51+9713G>A (CDC42) | ENSP00000497733.1:n.-51+9713G>A | |
| XR_947048.1:n.84-3485C>T | ||
| XR_002958282.1:n.141-3485C>T (CDC42-AS1) |