gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012766 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00013773 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68824575G>A , CM000674.2:g.68824575G>A | GRCh38 |
| NC_000012.11:g.69218355G>A , CM000674.1:g.69218355G>A | GRCh37 |
| NC_000012.10:g.67504622G>A | NCBI36 |
| NG_016708.1:g.21385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258149.11:c.447G>A MANE Select | ENSP00000258149.6:p.Gln149= | |
| ENST00000258149.10:c.447G>A | ENSP00000258149.6:p.Gln149= | |
| ENST00000348801.7:c.68-11254G>A | ||
| ENST00000393416.7:c.522G>A | ENSP00000377068.3:p.Gln174= | |
| ENST00000393417.8:c.*303G>A | ENSP00000429021.3:n.*303G>A | |
| ENST00000478070.2:c.117+4201G>A | ||
| ENST00000481186.6:c.171G>A | ||
| ENST00000539479.6:c.429G>A | ENSP00000444430.2:p.Gln143= | |
| ENST00000544561.6:c.321G>A | ENSP00000441841.2:p.Gln107= | |
| ENST00000545204.2:c.102G>A | ENSP00000444597.2:p.Gln34= | |
| ENST00000665020.1:c.474G>A | ENSP00000499718.1:p.Gln158= | |
| ENST00000666617.1:c.340G>A | ENSP00000499763.1:n.340G>A | |
| ENST00000671567.1:c.529G>A | ENSP00000499407.1:n.529G>A | |
| ENST00000258148.11:c.359-4196G>A | ENSP00000258148.7:n.359-4196G>A | |
| ENST00000258149.9:c.447G>A | ENSP00000258149.6:p.Gln149= | |
| ENST00000299252.8:c.156+10947G>A | ENSP00000299252.4:n.156+10947G>A | |
| ENST00000311420.13:c.*58G>A | ENSP00000310742.9:n.*58G>A | |
| ENST00000348801.6:c.67-11254G>A | ENSP00000335096.3:n.67-11254G>A | |
| ENST00000350057.9:c.354G>A | ENSP00000266624.9:p.Gln118= | |
| ENST00000356290.8:c.156+10947G>A | ENSP00000348637.4:n.156+10947G>A | |
| ENST00000360430.6:c.82-11254G>A | ENSP00000353611.2:n.82-11254G>A | |
| ENST00000393410.5:c.156+10947G>A | ENSP00000377062.1:n.156+10947G>A | |
| ENST00000393412.7:c.156+10947G>A | ENSP00000377064.4:n.156+10947G>A | |
| ENST00000393413.7:c.82-14699G>A | ENSP00000377065.3:n.82-14699G>A | |
| ENST00000393415.7:c.429G>A | ENSP00000377067.3:p.Gln143= | |
| ENST00000393416.6:c.522G>A | ENSP00000377068.2:p.Gln174= | |
| ENST00000393417.7:c.*303G>A | ENSP00000429021.2:n.*303G>A | |
| ENST00000428863.6:c.429G>A | ENSP00000410694.3:p.Gln143= | |
| ENST00000462284.5:c.354G>A | ENSP00000417281.2:p.Gln118= | |
| ENST00000478070.1:c.116+4201G>A | ENSP00000430906.1:n.116+4201G>A | |
| ENST00000481186.5:c.170G>A | ENSP00000431110.1:n.170G>A | |
| ENST00000496959.5:c.245G>A | ENSP00000429692.1:n.245G>A | |
| ENST00000517852.5:c.156+10947G>A | ENSP00000430257.1:n.156+10947G>A | |
| ENST00000523991.5:c.156+10947G>A | ENSP00000427828.1:n.156+10947G>A | |
| ENST00000536089.5:c.295G>A | ENSP00000444028.1:n.295G>A | |
| ENST00000537182.5:c.274+145G>A | ENSP00000443450.1:n.274+145G>A | |
| ENST00000539479.5:c.429G>A | ENSP00000444430.1:p.Gln143= | |
| ENST00000540352.5:c.429G>A | ENSP00000445030.1:p.Gln143= | |
| ENST00000542502.5:c.157-4196G>A | ENSP00000444566.1:n.157-4196G>A | |
| ENST00000543046.1:n.249G>A | ||
| ENST00000543323.5:c.156+10947G>A | ENSP00000439238.1:n.156+10947G>A | |
| ENST00000544561.5:c.183+7737G>A | ENSP00000441841.1:n.183+7737G>A | |
| ENST00000545204.1:c.88-14964G>A | ENSP00000444597.1:n.88-14964G>A | |
| ENST00000546048.5:c.288+7G>A | ENSP00000445222.1:n.288+7G>A | |
| NM_001145337.2:c.429G>A | NP_001138809.1:p.Gln143= | |
| NM_001145339.2:c.359-4196G>A | NP_001138811.1:n.359-4196G>A | |
| NM_001145340.2:c.156+10947G>A | NP_001138812.1:n.156+10947G>A | |
| NM_001278462.1:c.156+10947G>A | NP_001265391.1:n.156+10947G>A | |
| NM_002392.5:c.447G>A | NP_002383.2:p.Gln149= | |
| XM_005268872.3:c.429G>A | XP_005268929.1:p.Gln143= | |
| XM_006719399.2:c.246G>A | XP_006719462.1:p.Gln82= | |
| XM_006719400.2:c.126G>A | XP_006719463.1:p.Gln42= | |
| XM_005268872.5:c.429G>A | XP_005268929.1:p.Gln143= | |
| XM_006719399.4:c.246G>A | XP_006719462.1:p.Gln82= | |
| XM_006719400.4:c.126G>A | XP_006719463.1:p.Gln42= | |
| NM_001145337.3:c.429G>A | NP_001138809.1:p.Gln143= | |
| NM_001145340.3:c.156+10947G>A | NP_001138812.1:n.156+10947G>A | |
| NM_001278462.2:c.156+10947G>A | NP_001265391.1:n.156+10947G>A | |
| NM_001367990.1:c.429G>A | NP_001354919.1:p.Gln143= | |
| NM_002392.6:c.447G>A MANE Select | NP_002383.2:p.Gln149= |