gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89327232C>T , CM000677.2:g.89327232C>T | GRCh38 |
| NC_000015.9:g.89870463C>T , CM000677.1:g.89870463C>T | GRCh37 |
| NC_000015.8:g.87671467C>T | NCBI36 |
| NG_008218.1:g.12564G>A | |
| NG_008218.2:g.12564G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1368G>A | ENSP00000516154.1:p.Gln456= | |
| ENST00000268124.11:c.1368G>A MANE Select | ENSP00000268124.5:p.Gln456= | |
| ENST00000530292.3:c.969G>A | ENSP00000432885.2:p.Gln323= | |
| ENST00000635986.2:c.1368G>A | ENSP00000490653.2:p.Gln456= | |
| ENST00000636774.1:c.1368G>A | ENSP00000489799.1:p.Gln456= | |
| ENST00000637238.1:c.105G>A | ENSP00000490756.1:p.Gln35= | |
| ENST00000637264.1:c.440G>A | ||
| ENST00000666746.1:c.945G>A | ||
| ENST00000672071.1:n.1566G>A | ||
| ENST00000672923.2:n.1471G>A | ||
| ENST00000268124.9:c.1368G>A | ENSP00000268124.5:p.Gln456= | |
| ENST00000442287.6:c.1368G>A | ENSP00000399851.2:p.Gln456= | |
| ENST00000532363.2:n.226G>A | ||
| ENST00000631044.2:c.*751G>A | ENSP00000486730.1:n.*751G>A | |
| NM_001126131.1:c.1368G>A | NP_001119603.1:p.Gln456= | |
| NM_002693.2:c.1368G>A | NP_002684.1:p.Gln456= | |
| NM_001126131.2:c.1368G>A | NP_001119603.1:p.Gln456= | |
| NM_002693.3:c.1368G>A MANE Select | NP_002684.1:p.Gln456= |