gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001233 (SAS)
Genomes Max Group AF
0.00001439 (NFE)
Exomes Max Group AF
0.00001296 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43611237G>A , CM000677.2:g.43611237G>A | GRCh38 |
| NC_000015.9:g.43903435G>A , CM000677.1:g.43903435G>A | GRCh37 |
| NC_000015.8:g.41690727G>A | NCBI36 |
| NG_011636.1:g.12564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.3217C>T MANE Select | ENSP00000401513.2:p.Arg1073Ter | |
| ENST00000428650.5:c.*249C>T | ENSP00000415991.1:n.*249C>T | |
| ENST00000440125.5:c.*1215+262C>T | ENSP00000394866.1:n.*1215+262C>T | |
| ENST00000448437.6:n.444C>T | ||
| ENST00000450892.6:c.3217C>T | ENSP00000401513.2:p.Arg1073Ter | |
| ENST00000455136.5:c.529+262C>T | ||
| ENST00000470279.1:n.531C>T | ||
| ENST00000471703.5:n.356C>T | ||
| ENST00000483250.5:n.528C>T | ||
| ENST00000485556.5:n.587C>T | ||
| ENST00000541030.5:c.1104+262C>T | ENSP00000440413.1:n.1104+262C>T | |
| NM_153700.2:c.3217C>T MANE Select | NP_714544.1:p.Arg1073Ter | |
| XM_011521277.1:c.3706C>T | XP_011519579.1:p.Arg1236Ter | |
| XM_011521278.1:c.3319C>T | XP_011519580.1:p.Arg1107Ter | |
| XM_011521279.1:c.3319C>T | XP_011519581.1:p.Arg1107Ter |