Revel Score:
ENST00000314630
0.732
ENST00000367090
0.732
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004377 (AFR)
Genomes Max Group AF
0.00003251 (AFR)
Exomes Max Group AF
0.00002378 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158629769A>G , CM000668.2:g.158629769A>G | GRCh38 |
| NC_000006.11:g.159050801A>G , CM000668.1:g.159050801A>G | GRCh37 |
| NC_000006.10:g.158970789A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684151.1:c.1232A>G MANE Select | ENSP00000507085.1:p.Tyr411Cys | |
| ENST00000367090.4:c.1355A>G | ENSP00000356057.4:p.Tyr452Cys | |
| ENST00000367090.3:c.1643A>G | ENSP00000356057.3:p.Tyr548Cys | |
| NM_020823.1:c.1643A>G | NP_065874.1:p.Tyr548Cys | |
| XM_005267074.2:c.1232A>G | XP_005267131.1:p.Tyr411Cys | |
| XM_011535999.1:c.1667A>G | XP_011534301.1:p.Tyr556Cys | |
| XM_011536000.1:c.1545-1554A>G | XP_011534302.1:n.1545-1554A>G | |
| XM_011536001.1:c.1310A>G | XP_011534303.1:p.Tyr437Cys | |
| XM_011536002.1:c.1286A>G | XP_011534304.1:p.Tyr429Cys | |
| XM_005267074.4:c.1232A>G | XP_005267131.1:p.Tyr411Cys | |
| XM_011536001.2:c.1310A>G | XP_011534303.1:p.Tyr437Cys | |
| XM_011536002.2:c.1286A>G | XP_011534304.1:p.Tyr429Cys | |
| NM_001376817.1:c.1379A>G | NP_001363746.1:p.Tyr460Cys | |
| NM_001376850.1:c.1256A>G | NP_001363779.1:p.Tyr419Cys | |
| NM_001376852.1:c.1232A>G MANE Select | NP_001363781.1:p.Tyr411Cys | |
| NM_001376854.1:c.1151A>G | NP_001363783.1:p.Tyr384Cys | |
| NM_001376855.1:c.1136A>G | NP_001363784.1:p.Tyr379Cys | |
| NM_001376856.1:c.989A>G | NP_001363785.1:p.Tyr330Cys | |
| NM_020823.2:c.1355A>G | NP_065874.2:p.Tyr452Cys | |
| NR_164859.1:n.1366A>G |