Revel Score:
ENST00000259008 (MANE Select)
0.120
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61686018G>A , CM000679.2:g.61686018G>A | GRCh38 |
| NC_000017.10:g.59763379G>A , CM000679.1:g.59763379G>A | GRCh37 |
| NC_000017.9:g.57118161G>A | NCBI36 |
| NG_007409.2:g.182542C>T , LRG_300:g.182542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2853C>T | ENSP00000507191.1:n.2853C>T | |
| ENST00000682073.1:n.1463C>T | ||
| ENST00000682433.1:n.1802C>T | ||
| ENST00000682453.1:c.2723C>T | ENSP00000506943.1:p.Thr908Ile | |
| ENST00000682477.1:c.*2149C>T | ENSP00000507075.1:n.*2149C>T | |
| ENST00000682589.1:n.8600C>T | ||
| ENST00000682755.1:c.2501C>T | ENSP00000507660.1:p.Thr834Ile | |
| ENST00000682989.1:c.2610-1878C>T | ENSP00000507786.1:n.2610-1878C>T | |
| ENST00000683039.1:c.2723C>T | ENSP00000508303.1:p.Thr908Ile | |
| ENST00000683235.1:c.*138C>T | ENSP00000507646.1:n.*138C>T | |
| ENST00000683535.1:n.853C>T | ||
| ENST00000684471.1:n.1136C>T | ||
| ENST00000684584.1:c.2069-1878C>T | ENSP00000508044.1:n.2069-1878C>T | |
| ENST00000684626.1:n.969C>T | ||
| ENST00000684769.1:c.913C>T | ENSP00000507691.1:n.913C>T | |
| ENST00000259008.7:c.2723C>T MANE Select | ENSP00000259008.2:p.Thr908Ile | |
| ENST00000259008.6:c.2723C>T | ENSP00000259008.2:p.Thr908Ile | |
| ENST00000577598.5:c.2723C>T | ENSP00000464654.1:p.Thr908Ile | |
| NM_032043.2:c.2723C>T , LRG_300t1:c.2723C>T | NP_114432.2:p.Thr908Ile | |
| XM_011525332.1:c.2783C>T | XP_011523634.1:p.Thr928Ile | |
| XM_011525333.1:c.2783C>T | XP_011523635.1:p.Thr928Ile | |
| XM_011525334.1:c.2783C>T | XP_011523636.1:p.Thr928Ile | |
| XM_011525335.1:c.2723C>T | XP_011523637.1:p.Thr908Ile | |
| XM_011525336.1:c.2663C>T | XP_011523638.1:p.Thr888Ile | |
| XM_011525337.1:c.2582C>T | XP_011523639.1:p.Thr861Ile | |
| XM_011525338.1:c.2300C>T | XP_011523640.1:p.Thr767Ile | |
| XM_011525332.3:c.2783C>T | XP_011523634.1:p.Thr928Ile | |
| XM_011525333.3:c.2783C>T | XP_011523635.1:p.Thr928Ile | |
| XM_011525334.2:c.2783C>T | XP_011523636.1:p.Thr928Ile | |
| XM_011525335.3:c.2723C>T | XP_011523637.1:p.Thr908Ile | |
| XM_011525336.2:c.2663C>T | XP_011523638.1:p.Thr888Ile | |
| XM_011525337.2:c.2582C>T | XP_011523639.1:p.Thr861Ile | |
| XM_011525338.2:c.2300C>T | XP_011523640.1:p.Thr767Ile | |
| XM_017025200.1:c.2240C>T | XP_016880689.1:p.Thr747Ile | |
| XM_017025201.1:c.2240C>T | XP_016880690.1:p.Thr747Ile | |
| XM_017025202.1:c.869C>T | XP_016880691.1:p.Thr290Ile | |
| XM_017025203.1:c.869C>T | XP_016880692.1:p.Thr290Ile | |
| NM_032043.3:c.2723C>T MANE Select | NP_114432.2:p.Thr908Ile |