Revel Score:
ENST00000324559 (MANE Select)
0.967
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002612 (NFE)
Exomes Max Group AF
0.00002773 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22276096A>G , CM000673.2:g.22276096A>G | GRCh38 |
| NC_000011.9:g.22297642A>G , CM000673.1:g.22297642A>G | GRCh37 |
| NC_000011.8:g.22254218A>G | NCBI36 |
| NG_015844.1:g.87921A>G , LRG_868:g.87921A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.434A>G | ||
| ENST00000682266.1:c.1967A>G | ENSP00000507766.1:p.Tyr656Cys | |
| ENST00000682341.1:c.2375A>G | ENSP00000508251.1:p.Tyr792Cys | |
| ENST00000683197.1:c.2372+1349A>G | ENSP00000507641.1:n.2372+1349A>G | |
| ENST00000683411.1:c.1967A>G | ENSP00000508397.1:p.Tyr656Cys | |
| ENST00000683437.1:c.1967A>G | ENSP00000508408.1:p.Tyr656Cys | |
| ENST00000683613.1:n.3411A>G | ||
| ENST00000684663.1:c.2372A>G | ENSP00000508009.1:p.Tyr791Cys | |
| ENST00000324559.9:c.2417A>G MANE Select | ENSP00000315371.9:p.Tyr806Cys | |
| ENST00000648804.1:n.2752A>G | ||
| ENST00000324559.8:c.2417A>G | ENSP00000315371.8:p.Tyr806Cys | |
| ENST00000532043.1:n.434A>G | ||
| NM_001142649.1:c.2414A>G | NP_001136121.1:p.Tyr805Cys | |
| NM_213599.2:c.2417A>G , LRG_868t1:c.2417A>G | NP_998764.1:p.Tyr806Cys | |
| XM_005252820.2:c.2375A>G | XP_005252877.2:p.Tyr792Cys | |
| XM_005252821.2:c.2372A>G | XP_005252878.2:p.Tyr791Cys | |
| XM_005252822.3:c.2339A>G | XP_005252879.1:p.Tyr780Cys | |
| XM_005252823.3:c.2336A>G | XP_005252880.1:p.Tyr779Cys | |
| XM_011519949.1:c.2324A>G | XP_011518251.1:p.Tyr775Cys | |
| XM_005252820.3:c.2375A>G | XP_005252877.2:p.Tyr792Cys | |
| XM_005252821.3:c.2372A>G | XP_005252878.2:p.Tyr791Cys | |
| XM_005252822.4:c.2339A>G | XP_005252879.1:p.Tyr780Cys | |
| XM_011519949.2:c.2324A>G | XP_011518251.1:p.Tyr775Cys | |
| NM_001142649.2:c.2414A>G | NP_001136121.1:p.Tyr805Cys | |
| NM_213599.3:c.2417A>G MANE Select | NP_998764.1:p.Tyr806Cys |