gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37616334 (AFR)
Genomes Max Group AF
0.3761574 (AFR)
Exomes Max Group AF
0.06221448 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7900599G>A , CM000667.2:g.7900599G>A | GRCh38 |
| NC_000005.9:g.7900712G>A , CM000667.1:g.7900712G>A | GRCh37 |
| NC_000005.8:g.7953712G>A | NCBI36 |
| NG_008856.1:g.36496G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.*541G>A MANE Select | ENSP00000402510.2:n.*541G>A | |
| ENST00000264668.6:c.*541G>A | ENSP00000264668.2:n.*541G>A | |
| ENST00000440940.6:c.*541G>A | ENSP00000402510.2:n.*541G>A | |
| ENST00000506115.1:n.543+142G>A | ||
| ENST00000510525.5:c.2574G>A | ||
| ENST00000511461.5:c.2551G>A | ||
| NM_002454.2:c.*541G>A | NP_002445.2:n.*541G>A | |
| NM_024010.2:c.*541G>A | NP_076915.2:n.*541G>A | |
| XM_011514044.1:c.*541G>A | XP_011512346.1:n.*541G>A | |
| XR_241703.1:n.2645G>A | ||
| XR_925614.1:n.2764G>A | ||
| NM_001364440.1:c.*541G>A | NP_001351369.1:n.*541G>A | |
| NM_001364441.1:c.*541G>A | NP_001351370.1:n.*541G>A | |
| NM_001364442.1:c.*541G>A | NP_001351371.1:n.*541G>A | |
| NM_024010.3:c.*541G>A | NP_076915.3:n.*541G>A | |
| NR_134480.1:n.2761G>A | ||
| NR_134481.1:n.2686G>A | ||
| NR_134482.1:n.2621G>A | ||
| NR_157168.1:n.2691G>A | ||
| NR_157169.1:n.2551G>A | ||
| NR_157170.1:n.2717G>A | ||
| NR_157171.1:n.2574G>A | ||
| NR_157172.1:n.2488G>A | ||
| NR_157173.1:n.2728G>A | ||
| NR_157174.1:n.2729G>A | ||
| NR_157175.1:n.2883G>A | ||
| NR_157176.1:n.3046G>A | ||
| NR_157177.1:n.2726G>A | ||
| NR_157178.1:n.2754G>A | ||
| XM_024446063.1:c.*541G>A | XP_024301831.1:n.*541G>A | |
| XM_024446064.1:c.*541G>A | XP_024301832.1:n.*541G>A | |
| XR_001742071.1:n.2916G>A | ||
| XR_001742072.1:n.2893G>A | ||
| XR_001742074.1:n.2652G>A | ||
| XR_001742075.1:n.2804G>A | ||
| XR_001742076.1:n.2881G>A | ||
| XR_001742077.1:n.2904G>A | ||
| NM_001364440.2:c.*541G>A | NP_001351369.1:n.*541G>A | |
| NM_001364441.2:c.*541G>A | NP_001351370.1:n.*541G>A | |
| NM_001364442.2:c.*541G>A | NP_001351371.1:n.*541G>A | |
| NM_002454.3:c.*541G>A MANE Select | NP_002445.2:n.*541G>A | |
| NM_024010.4:c.*541G>A | NP_076915.3:n.*541G>A | |
| NR_134480.2:n.2717G>A | ||
| NR_134481.2:n.2642G>A | ||
| NR_134482.2:n.2577G>A | ||
| NR_157168.2:n.2691G>A | ||
| NR_157169.2:n.2551G>A | ||
| NR_157170.2:n.2717G>A | ||
| NR_157171.2:n.2574G>A | ||
| NR_157172.2:n.2488G>A | ||
| NR_157173.2:n.2728G>A | ||
| NR_157174.2:n.2729G>A | ||
| NR_157175.2:n.2883G>A | ||
| NR_157176.2:n.3046G>A | ||
| NR_157177.2:n.2726G>A | ||
| NR_157178.2:n.2754G>A |