gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11037099 (NFE)
Genomes Max Group AF
0.11037099 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78443279G>A , CM000679.2:g.78443279G>A | GRCh38 |
| NC_000017.10:g.76439361G>A , CM000679.1:g.76439361G>A | GRCh37 |
| NC_000017.9:g.73950956G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.11528+1325C>T MANE Select | ENSP00000374490.6:n.11528+1325C>T | |
| ENST00000389840.6:c.11528+1325C>T | ENSP00000374490.6:n.11528+1325C>T | |
| ENST00000585328.5:c.11513+1325C>T | ENSP00000465516.1:n.11513+1325C>T | |
| ENST00000586052.5:n.4813+1325C>T | ||
| ENST00000590227.5:n.1202+1325C>T | ||
| ENST00000591369.5:c.3130+1325C>T | ||
| NM_173628.3:c.11528+1325C>T | NP_775899.3:n.11528+1325C>T | |
| XM_011525416.1:c.11528+1325C>T | XP_011523718.1:n.11528+1325C>T | |
| XM_011525418.1:c.4895+1325C>T | XP_011523720.1:n.4895+1325C>T | |
| XR_934583.1:n.11689+1325C>T | ||
| XM_011525416.2:c.11528+1325C>T | XP_011523718.1:n.11528+1325C>T | |
| XM_017025261.2:c.4862+1325C>T | XP_016880750.1:n.4862+1325C>T | |
| XM_024451013.1:c.11384+1325C>T | XP_024306781.1:n.11384+1325C>T | |
| XR_002958080.1:n.11691+1325C>T | ||
| NM_173628.4:c.11528+1325C>T MANE Select | NP_775899.3:n.11528+1325C>T |