Revel Score:
ENST00000259008 (MANE Select)
0.814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61715995C>G , CM000679.2:g.61715995C>G | GRCh38 |
| NC_000017.10:g.59793356C>G , CM000679.1:g.59793356C>G | GRCh37 |
| NC_000017.9:g.57148138C>G | NCBI36 |
| NG_007409.2:g.152565G>C , LRG_300:g.152565G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2578G>C | ENSP00000507191.1:n.2578G>C | |
| ENST00000682073.1:n.1188G>C | ||
| ENST00000682433.1:n.1527G>C | ||
| ENST00000682453.1:c.2448G>C | ENSP00000506943.1:p.Trp816Cys | |
| ENST00000682477.1:c.*1874G>C | ENSP00000507075.1:n.*1874G>C | |
| ENST00000682589.1:n.8325G>C | ||
| ENST00000682755.1:c.2226G>C | ENSP00000507660.1:p.Trp742Cys | |
| ENST00000682989.1:c.2448G>C | ENSP00000507786.1:p.Trp816Cys | |
| ENST00000683039.1:c.2448G>C | ENSP00000508303.1:p.Trp816Cys | |
| ENST00000683235.1:c.2448G>C | ENSP00000507646.1:p.Trp816Cys | |
| ENST00000683535.1:n.578G>C | ||
| ENST00000684471.1:n.861G>C | ||
| ENST00000684584.1:c.1941G>C | ENSP00000508044.1:p.Trp647Cys | |
| ENST00000684626.1:n.777G>C | ||
| ENST00000684769.1:c.513G>C | ENSP00000507691.1:p.Trp171Cys | |
| ENST00000259008.7:c.2448G>C MANE Select | ENSP00000259008.2:p.Trp816Cys | |
| ENST00000259008.6:c.2448G>C | ENSP00000259008.2:p.Trp816Cys | |
| ENST00000577598.5:c.2448G>C | ENSP00000464654.1:p.Trp816Cys | |
| NM_032043.2:c.2448G>C , LRG_300t1:c.2448G>C | NP_114432.2:p.Trp816Cys | |
| XM_011525332.1:c.2508G>C | XP_011523634.1:p.Trp836Cys | |
| XM_011525333.1:c.2508G>C | XP_011523635.1:p.Trp836Cys | |
| XM_011525334.1:c.2508G>C | XP_011523636.1:p.Trp836Cys | |
| XM_011525335.1:c.2448G>C | XP_011523637.1:p.Trp816Cys | |
| XM_011525336.1:c.2388G>C | XP_011523638.1:p.Trp796Cys | |
| XM_011525337.1:c.2307G>C | XP_011523639.1:p.Trp769Cys | |
| XM_011525338.1:c.2025G>C | XP_011523640.1:p.Trp675Cys | |
| XM_011525339.1:c.*89G>C | XP_011523641.1:n.*89G>C | |
| XM_011525340.1:c.2508G>C | XP_011523642.1:p.Trp836Cys | |
| XM_011525332.3:c.2508G>C | XP_011523634.1:p.Trp836Cys | |
| XM_011525333.3:c.2508G>C | XP_011523635.1:p.Trp836Cys | |
| XM_011525334.2:c.2508G>C | XP_011523636.1:p.Trp836Cys | |
| XM_011525335.3:c.2448G>C | XP_011523637.1:p.Trp816Cys | |
| XM_011525336.2:c.2388G>C | XP_011523638.1:p.Trp796Cys | |
| XM_011525337.2:c.2307G>C | XP_011523639.1:p.Trp769Cys | |
| XM_011525338.2:c.2025G>C | XP_011523640.1:p.Trp675Cys | |
| XM_011525339.3:c.*89G>C | XP_011523641.1:n.*89G>C | |
| XM_011525340.3:c.2508G>C | XP_011523642.1:p.Trp836Cys | |
| XM_017025200.1:c.1965G>C | XP_016880689.1:p.Trp655Cys | |
| XM_017025201.1:c.1965G>C | XP_016880690.1:p.Trp655Cys | |
| XM_017025202.1:c.594G>C | XP_016880691.1:p.Trp198Cys | |
| XM_017025203.1:c.594G>C | XP_016880692.1:p.Trp198Cys | |
| NM_032043.3:c.2448G>C MANE Select | NP_114432.2:p.Trp816Cys |