gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54708105 (AMR)
Genomes Max Group AF
0.49886625 (AMR)
Exomes Max Group AF
0.56353047 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108899544A>G , CM000674.2:g.108899544A>G | GRCh38 |
| NC_000012.11:g.109293320A>G , CM000674.1:g.109293320A>G | GRCh37 |
| NC_000012.10:g.107817449A>G | NCBI36 |
| NG_023236.1:g.24464A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228476.8:c.912+69A>G MANE Select | ENSP00000228476.3:n.912+69A>G | |
| ENST00000228476.7:c.912+69A>G | ENSP00000228476.3:n.912+69A>G | |
| ENST00000546552.1:n.424+69A>G | ||
| ENST00000547122.5:c.*560+69A>G | ENSP00000448095.1:n.*560+69A>G | |
| ENST00000549215.5:c.*532A>G | ENSP00000449248.1:n.*532A>G | |
| ENST00000551281.5:c.714+69A>G | ENSP00000446853.1:n.714+69A>G | |
| NM_001917.4:c.912+69A>G | NP_001908.3:n.912+69A>G | |
| XM_005268692.2:c.846+69A>G | XP_005268749.1:n.846+69A>G | |
| XM_011538004.1:c.912+69A>G | XP_011536306.1:n.912+69A>G | |
| XM_011538005.1:c.912+69A>G | XP_011536307.1:n.912+69A>G | |
| XM_005268692.4:c.846+69A>G | XP_005268749.1:n.846+69A>G | |
| XM_011538004.2:c.912+69A>G | XP_011536306.1:n.912+69A>G | |
| XM_011538005.2:c.912+69A>G | XP_011536307.1:n.912+69A>G | |
| NM_001917.5:c.912+69A>G MANE Select | NP_001908.3:n.912+69A>G |