gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00029829 (AFR)
Genomes Max Group AF
0.00022194 (AFR)
Exomes Max Group AF
0.00029941 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948023G>A , CM000678.2:g.13948023G>A | GRCh38 |
| NC_000016.9:g.14041880G>A , CM000678.1:g.14041880G>A | GRCh37 |
| NC_000016.8:g.13949381G>A | NCBI36 |
| NG_011442.1:g.32867G>A , LRG_463:g.32867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2565G>A | ENSP00000507912.1:p.Thr855= | |
| ENST00000683962.1:c.*2121G>A | ENSP00000506854.1:n.*2121G>A | |
| ENST00000311895.8:c.2427G>A MANE Select | ENSP00000310520.7:p.Thr809= | |
| ENST00000311895.7:c.2427G>A | ENSP00000310520.7:p.Thr809= | |
| ENST00000389138.7:n.1704G>A | ||
| NM_005236.2:c.2427G>A , LRG_463t1:c.2427G>A | NP_005227.1:p.Thr809= | |
| XM_011522424.1:c.2565G>A | XP_011520726.1:p.Thr855= | |
| XM_011522425.1:c.1884G>A | XP_011520727.1:p.Thr628= | |
| XM_011522426.1:c.1638G>A | XP_011520728.1:p.Thr546= | |
| XM_011522427.1:c.1077G>A | XP_011520729.1:p.Thr359= | |
| XR_932805.1:n.2586G>A | ||
| XM_011522424.3:c.2565G>A | XP_011520726.1:p.Thr855= | |
| XM_017023043.2:c.1638G>A | XP_016878532.1:p.Thr546= | |
| NM_005236.3:c.2427G>A MANE Select | NP_005227.1:p.Thr809= |