gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00086411 (NFE)
Genomes Max Group AF
0.00088846 (NFE)
Exomes Max Group AF
0.00085207 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2833834A>G , CM000666.2:g.2833834A>G | GRCh38 |
| NC_000004.11:g.2835561A>G , CM000666.1:g.2835561A>G | GRCh37 |
| NC_000004.10:g.2805359A>G | NCBI36 |
| NG_011609.1:g.45812A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.1770A>G | ENSP00000403231.3:p.Ter590Trp | |
| ENST00000452765.7:c.335A>G | ||
| ENST00000503393.8:c.1686A>G MANE Select | ENSP00000422168.3:p.Ter562Trp | |
| ENST00000511747.6:c.1857A>G | ENSP00000424846.2:p.Ter619Trp | |
| ENST00000356331.9:c.1686A>G | ENSP00000348685.5:p.Ter562Trp | |
| ENST00000435136.6:c.1686A>G | ENSP00000403231.2:p.Ter562Trp | |
| ENST00000442312.6:c.1770A>G | ENSP00000388152.2:p.Ter590Trp | |
| ENST00000452765.6:c.1686A>G | ENSP00000409746.2:p.Ter562Trp | |
| ENST00000503393.6:c.1857A>G | ENSP00000422168.2:p.Ter619Trp | |
| ENST00000510204.5:n.3162A>G | ||
| ENST00000511747.5:c.1686A>G | ENSP00000424846.1:p.Ter562Trp | |
| ENST00000513069.1:c.740A>G | ||
| ENST00000515737.5:c.*1571A>G | ENSP00000422605.1:n.*1571A>G | |
| ENST00000515802.5:n.1792A>G | ||
| NM_001122681.1:c.1686A>G | NP_001116153.1:p.Ter562Trp | |
| NM_001145855.1:c.1770A>G | NP_001139327.1:p.Ter590Trp | |
| NM_001145856.1:c.1857A>G | NP_001139328.1:p.Ter619Trp | |
| NM_003023.4:c.1686A>G | NP_003014.3:p.Ter562Trp | |
| XM_005247998.3:c.1695A>G | XP_005248055.1:p.Ter565Trp | |
| XM_005247999.3:c.1686A>G | XP_005248056.1:p.Ter562Trp | |
| XM_011513547.1:c.1857A>G | XP_011511849.1:p.Ter619Trp | |
| XM_011513548.1:c.*169A>G | XP_011511850.1:n.*169A>G | |
| XM_011513549.1:c.1686A>G | XP_011511851.1:p.Ter562Trp | |
| XM_011513550.1:c.1686A>G | XP_011511852.1:p.Ter562Trp | |
| XM_011513551.1:c.*169A>G | XP_011511853.1:n.*169A>G | |
| XM_011513552.1:c.1515A>G | XP_011511854.1:p.Ter505Trp | |
| XM_011513553.1:c.1323A>G | XP_011511855.1:p.Ter441Trp | |
| XM_011513554.1:c.975A>G | XP_011511856.1:p.Ter325Trp | |
| XM_011513555.1:c.*161A>G | XP_011511857.1:n.*161A>G | |
| XM_011513556.1:c.*161A>G | XP_011511858.1:n.*161A>G | |
| XR_924990.1:n.1759A>G | ||
| NM_001122681.2:c.1686A>G MANE Select | NP_001116153.1:p.Ter562Trp | |
| NM_001145855.2:c.1770A>G | NP_001139327.1:p.Ter590Trp | |
| NM_001145856.2:c.1857A>G | NP_001139328.1:p.Ter619Trp |