Revel Score:
ENST00000360814 (MANE Select)
0.149
ENST00000546436
0.149
ENST00000548660
0.149
ENST00000547583
0.149
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01611123 (NFE)
Genomes Max Group AF
0.01449328 (NFE)
Exomes Max Group AF
0.01616885 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.104015054T>C , CM000674.2:g.104015054T>C | GRCh38 |
| NC_000012.11:g.104408832T>C , CM000674.1:g.104408832T>C | GRCh37 |
| NC_000012.10:g.102932962T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360814.9:c.71A>G MANE Select | ENSP00000354053.4:p.Tyr24Cys | |
| ENST00000360814.8:c.71A>G | ENSP00000354053.4:p.Tyr24Cys | |
| ENST00000546436.5:c.71A>G | ENSP00000449750.1:p.Tyr24Cys | |
| ENST00000546851.1:c.-71-11748A>G | ENSP00000446810.1:n.-71-11748A>G | |
| ENST00000547583.1:c.71A>G | ENSP00000448065.1:p.Tyr24Cys | |
| ENST00000548660.5:c.71A>G | ENSP00000447450.1:p.Tyr24Cys | |
| ENST00000550816.1:n.226A>G | ||
| NM_001316967.1:c.71A>G | NP_001303896.1:p.Tyr24Cys | |
| NM_031302.3:c.71A>G | NP_112592.1:p.Tyr24Cys | |
| NM_031302.4:c.71A>G | NP_112592.1:p.Tyr24Cys | |
| XM_011538793.1:c.71A>G | XP_011537095.1:p.Tyr24Cys | |
| XM_011538794.1:c.71A>G | XP_011537096.1:p.Tyr24Cys | |
| XM_011538793.3:c.71A>G | XP_011537095.1:p.Tyr24Cys | |
| XM_017019999.1:c.71A>G | XP_016875488.1:p.Tyr24Cys | |
| NM_001316967.2:c.71A>G | NP_001303896.1:p.Tyr24Cys | |
| NM_001384711.1:c.71A>G MANE Select | NP_001371640.1:p.Tyr24Cys | |
| NM_001384712.1:c.71A>G | NP_001371641.1:p.Tyr24Cys | |
| NM_001384713.1:c.71A>G | NP_001371642.1:p.Tyr24Cys | |
| NM_001384715.1:c.71A>G | NP_001371644.1:p.Tyr24Cys | |
| NM_001384716.1:c.71A>G | NP_001371645.1:p.Tyr24Cys | |
| NM_001384717.1:c.71A>G | NP_001371646.1:p.Tyr24Cys | |
| NM_001384718.1:c.71A>G | NP_001371647.1:p.Tyr24Cys | |
| NM_001384719.1:c.71A>G | NP_001371648.1:p.Tyr24Cys | |
| NM_001384720.1:c.71A>G | NP_001371649.1:p.Tyr24Cys | |
| NM_001384721.1:c.71A>G | NP_001371650.1:p.Tyr24Cys | |
| NM_001384722.1:c.71A>G | NP_001371651.1:p.Tyr24Cys | |
| NM_031302.5:c.71A>G | NP_112592.1:p.Tyr24Cys |