gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07541252 (AFR)
Genomes Max Group AF
0.07391509 (AFR)
Exomes Max Group AF
0.07575124 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7531789T>C , CM000669.2:g.7531789T>C | GRCh38 |
| NC_000007.13:g.7571420T>C , CM000669.1:g.7571420T>C | GRCh37 |
| NC_000007.12:g.7537945T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399429.8:c.240A>G MANE Select | ENSP00000382356.3:p.Gln80= | |
| ENST00000399429.7:c.240A>G | ENSP00000382356.3:p.Gln80= | |
| NM_001037763.2:c.240A>G | NP_001032852.2:p.Gln80= | |
| XM_011515358.1:c.240A>G | XP_011513660.1:p.Gln80= | |
| XM_011515359.1:c.240A>G | XP_011513661.1:p.Gln80= | |
| XM_011515360.1:c.240A>G | XP_011513662.1:p.Gln80= | |
| XM_011515361.1:c.240A>G | XP_011513663.1:p.Gln80= | |
| XM_011515363.1:c.240A>G | XP_011513665.1:p.Gln80= | |
| XM_011515364.1:c.240A>G | XP_011513666.1:p.Gln80= | |
| XM_011515365.1:c.240A>G | XP_011513667.1:p.Gln80= | |
| XM_011515366.1:c.240A>G | XP_011513668.1:p.Gln80= | |
| XR_926936.1:n.443A>G | ||
| XM_011515358.3:c.240A>G | XP_011513660.1:p.Gln80= | |
| XM_011515359.2:c.240A>G | XP_011513661.1:p.Gln80= | |
| XM_011515360.2:c.240A>G | XP_011513662.1:p.Gln80= | |
| XM_011515363.2:c.240A>G | XP_011513665.1:p.Gln80= | |
| XM_011515364.2:c.240A>G | XP_011513666.1:p.Gln80= | |
| XM_011515365.2:c.240A>G | XP_011513667.1:p.Gln80= | |
| XM_011515366.2:c.240A>G | XP_011513668.1:p.Gln80= | |
| XM_017012131.2:c.240A>G | XP_016867620.1:p.Gln80= | |
| XM_017012132.2:c.240A>G | XP_016867621.1:p.Gln80= | |
| XM_017012133.1:c.240A>G | XP_016867622.1:p.Gln80= | |
| XR_001744688.1:n.1645A>G | ||
| XR_926936.3:n.1642A>G | ||
| NM_001037763.3:c.240A>G MANE Select | NP_001032852.2:p.Gln80= |