gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79740211 (AFR)
Genomes Max Group AF
0.79201528 (AFR)
Exomes Max Group AF
0.80084193 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218395121A>G , CM000664.2:g.218395121A>G | GRCh38 |
| NC_000002.11:g.219259844A>G , CM000664.1:g.219259844A>G | GRCh37 |
| NC_000002.10:g.218968088A>G | NCBI36 |
| NG_012128.1:g.18093A>G | |
| NG_030418.1:g.1784A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233202.11:c.*86A>G MANE Select | ENSP00000233202.6:n.*86A>G | |
| ENST00000233202.10:c.*86A>G | ENSP00000233202.6:n.*86A>G | |
| ENST00000354352.9:c.*1321A>G | ENSP00000346320.5:n.*1321A>G | |
| ENST00000465984.5:n.2160+55A>G | ||
| ENST00000468221.5:n.4866A>G | ||
| NM_000578.3:c.*86A>G | NP_000569.3:n.*86A>G | |
| XM_005246793.2:c.*86A>G | XP_005246850.1:n.*86A>G | |
| XM_005246794.2:c.*86A>G | XP_005246851.1:n.*86A>G | |
| XM_006712709.2:c.*86A>G | XP_006712772.1:n.*86A>G | |
| XM_006712710.2:c.*86A>G | XP_006712773.1:n.*86A>G | |
| XM_006712711.2:c.*86A>G | XP_006712774.1:n.*86A>G | |
| XM_011511684.1:c.*86A>G | XP_011509986.1:n.*86A>G | |
| XM_011511685.1:c.*86A>G | XP_011509987.1:n.*86A>G | |
| XM_005246793.4:c.*86A>G | XP_005246850.1:n.*86A>G | |
| XM_005246794.4:c.*86A>G | XP_005246851.1:n.*86A>G | |
| XM_006712709.4:c.*86A>G | XP_006712772.1:n.*86A>G | |
| XM_006712710.4:c.*86A>G | XP_006712773.1:n.*86A>G | |
| XM_006712711.4:c.*86A>G | XP_006712774.1:n.*86A>G | |
| XM_011511684.3:c.*86A>G | XP_011509986.1:n.*86A>G | |
| XM_011511685.3:c.*86A>G | XP_011509987.1:n.*86A>G | |
| XM_017004765.2:c.*86A>G | XP_016860254.1:n.*86A>G | |
| XM_017004766.2:c.*86A>G | XP_016860255.1:n.*86A>G | |
| XM_017004767.2:c.*86A>G | XP_016860256.1:n.*86A>G | |
| XR_427107.3:n.2754A>G | ||
| XR_427108.4:n.3065A>G | ||
| NM_000578.4:c.*86A>G MANE Select | NP_000569.3:n.*86A>G |