Revel Score:
ENST00000457167 (MANE Select)
0.749
ENST00000426588
0.749
ENST00000316603
0.749
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41983616T>C , CM000679.2:g.41983616T>C | GRCh38 |
| NC_000017.10:g.40135634T>C , CM000679.1:g.40135634T>C | GRCh37 |
| NC_000017.9:g.37389160T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316603.12:c.863A>G | ENSP00000313311.7:p.Tyr288Cys | |
| ENST00000457167.9:c.1031A>G MANE Select | ENSP00000406463.2:p.Tyr344Cys | |
| ENST00000585693.2:n.1053A>G | ||
| ENST00000585866.6:c.*1110A>G | ENSP00000466877.1:n.*1110A>G | |
| ENST00000586335.2:c.*87A>G | ENSP00000464993.2:n.*87A>G | |
| ENST00000589576.6:c.752A>G | ENSP00000468102.2:p.Tyr251Cys | |
| ENST00000590197.2:n.2452A>G | ||
| ENST00000590774.6:c.863A>G | ENSP00000465340.2:p.Tyr288Cys | |
| ENST00000674166.1:c.863A>G | ENSP00000501364.1:p.Tyr288Cys | |
| ENST00000674179.1:c.*87A>G | ENSP00000501513.1:n.*87A>G | |
| ENST00000674214.1:c.992A>G | ENSP00000501531.1:p.Tyr331Cys | |
| ENST00000674233.1:c.1031A>G | ENSP00000501456.1:p.Tyr344Cys | |
| ENST00000674249.1:c.*661A>G | ENSP00000501327.1:n.*661A>G | |
| ENST00000674252.1:c.863A>G | ENSP00000501366.1:p.Tyr288Cys | |
| ENST00000674287.1:c.863A>G | ENSP00000501482.1:p.Tyr288Cys | |
| ENST00000674303.1:c.863A>G | ENSP00000501468.1:p.Tyr288Cys | |
| ENST00000674306.1:c.917A>G | ENSP00000501356.1:p.Tyr306Cys | |
| ENST00000674355.1:c.913A>G | ||
| ENST00000674411.1:c.960A>G | ||
| ENST00000674453.1:c.1031A>G | ENSP00000501322.1:p.Tyr344Cys | |
| ENST00000674472.1:c.*87A>G | ENSP00000501477.1:n.*87A>G | |
| ENST00000674481.1:n.1874A>G | ||
| ENST00000674497.1:c.863A>G | ENSP00000501438.1:p.Tyr288Cys | |
| ENST00000674504.1:c.*2031A>G | ENSP00000501433.1:n.*2031A>G | |
| ENST00000316603.11:c.863A>G | ENSP00000313311.7:p.Tyr288Cys | |
| ENST00000426588.7:c.863A>G | ENSP00000394327.2:p.Tyr288Cys | |
| ENST00000457167.8:c.1031A>G | ENSP00000406463.2:p.Tyr344Cys | |
| ENST00000586335.1:c.355A>G | ||
| ENST00000588814.5:c.*656A>G | ENSP00000466114.1:n.*656A>G | |
| NM_001144766.2:c.863A>G | NP_001138238.1:p.Tyr288Cys | |
| NM_003315.3:c.1031A>G | NP_003306.3:p.Tyr344Cys | |
| NR_029431.1:n.1223A>G | ||
| XM_011525166.1:c.983A>G | XP_011523468.1:p.Tyr328Cys | |
| XM_011525167.1:c.863A>G | XP_011523469.1:p.Tyr288Cys | |
| XM_011525168.1:c.863A>G | XP_011523470.1:p.Tyr288Cys | |
| XM_011525169.1:c.863A>G | XP_011523471.1:p.Tyr288Cys | |
| XM_011525170.1:c.695A>G | XP_011523472.1:p.Tyr232Cys | |
| XR_934540.1:n.1176A>G | ||
| XM_011525167.3:c.863A>G | XP_011523469.1:p.Tyr288Cys | |
| XM_011525168.3:c.863A>G | XP_011523470.1:p.Tyr288Cys | |
| XM_011525169.3:c.863A>G | XP_011523471.1:p.Tyr288Cys | |
| XM_017024994.2:c.863A>G | XP_016880483.1:p.Tyr288Cys | |
| XR_001752602.2:n.1158A>G | ||
| NM_003315.4:c.1031A>G MANE Select | NP_003306.3:p.Tyr344Cys | |
| NM_001144766.3:c.863A>G | NP_001138238.1:p.Tyr288Cys | |
| NR_029431.2:n.965A>G |