gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001772 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317521G>A , CM000677.2:g.89317521G>A | GRCh38 |
| NC_000015.9:g.89860752G>A , CM000677.1:g.89860752G>A | GRCh37 |
| NC_000015.8:g.87661756G>A | NCBI36 |
| NG_008218.1:g.22275C>T | |
| NG_011736.1:g.78559G>A , LRG_500:g.78559G>A | |
| NG_008218.2:g.22275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3498C>T | ENSP00000516154.1:p.Tyr1166= | |
| ENST00000268124.11:c.3498C>T MANE Select | ENSP00000268124.5:p.Tyr1166= | |
| ENST00000530292.3:c.3198C>T | ENSP00000432885.2:n.3198C>T | |
| ENST00000635986.2:c.*568C>T | ENSP00000490653.2:n.*568C>T | |
| ENST00000636774.1:c.*2102C>T | ENSP00000489799.1:n.*2102C>T | |
| ENST00000637042.1:n.72-50C>T | ||
| ENST00000637238.1:c.2406C>T | ENSP00000490756.1:n.2406C>T | |
| ENST00000637264.1:c.2555-45C>T | ||
| ENST00000666746.1:c.3075C>T | ||
| ENST00000672071.1:n.4700C>T | ||
| ENST00000672695.1:n.1277C>T | ||
| ENST00000672923.2:n.3498C>T | ||
| ENST00000268124.9:c.3498C>T | ENSP00000268124.5:p.Tyr1166= | |
| ENST00000442287.6:c.3498C>T | ENSP00000399851.2:p.Tyr1166= | |
| ENST00000526671.1:n.308C>T | ||
| ENST00000530292.2:c.681C>T | ENSP00000432885.1:n.681C>T | |
| ENST00000631044.2:c.*2922C>T | ENSP00000486730.1:n.*2922C>T | |
| NM_001126131.1:c.3498C>T | NP_001119603.1:p.Tyr1166= | |
| NM_002693.2:c.3498C>T | NP_002684.1:p.Tyr1166= | |
| NM_001126131.2:c.3498C>T | NP_001119603.1:p.Tyr1166= | |
| NM_002693.3:c.3498C>T MANE Select | NP_002684.1:p.Tyr1166= |