Revel Score:
ENST00000520699
0.442
ENST00000517855
0.442
ENST00000342854 (MANE Select)
0.901
ENST00000361590
0.901
ENST00000321603
0.901
ENST00000321584
0.901
ENST00000378564
0.901
ENST00000395029
0.901
ENST00000378560
0.901
ENST00000432532
0.901
ENST00000520958
0.901
ENST00000518915
0.901
ENST00000395023
0.901
ENST00000517799
0.901
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134143082G>T , CM000667.2:g.134143082G>T | GRCh38 |
| NC_000005.9:g.133478773G>T , CM000667.1:g.133478773G>T | GRCh37 |
| NC_000005.8:g.133506672G>T | NCBI36 |
| NG_030367.1:g.33372G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522375.6:c.756G>T | ENSP00000427870.2:p.Trp252Cys | |
| ENST00000342854.10:c.1008G>T MANE Select | ENSP00000340347.5:p.Trp336Cys | |
| ENST00000342854.9:c.1008G>T | ENSP00000340347.5:p.Trp336Cys | |
| ENST00000378560.8:c.663G>T | ENSP00000367822.4:p.Trp221Cys | |
| ENST00000395023.5:c.663G>T | ENSP00000378469.1:p.Trp221Cys | |
| ENST00000395029.5:c.1008G>T | ENSP00000378472.1:p.Trp336Cys | |
| ENST00000517799.5:c.342G>T | ENSP00000427968.1:p.Trp114Cys | |
| ENST00000517855.5:c.373G>T | ||
| ENST00000518915.5:c.663G>T | ENSP00000430179.1:p.Trp221Cys | |
| ENST00000519238.1:n.1094G>T | ||
| ENST00000520699.1:c.182G>T | ||
| ENST00000520958.5:c.663G>T | ENSP00000429547.1:p.Trp221Cys | |
| ENST00000522653.5:n.930G>T | ||
| ENST00000524342.5:n.836G>T | ||
| NM_001134851.2:c.663G>T | NP_001128323.2:p.Trp221Cys | |
| NM_003202.3:c.1008G>T | NP_003193.2:p.Trp336Cys | |
| NM_201632.3:c.663G>T | NP_963963.1:p.Trp221Cys | |
| NM_201634.3:c.663G>T | NP_963965.1:p.Trp221Cys | |
| NM_213648.3:c.663G>T | NP_998813.1:p.Trp221Cys | |
| NR_033449.1:n.995G>T | ||
| XM_006714678.2:c.1101G>T | XP_006714741.1:p.Trp367Cys | |
| XM_006714679.2:c.1008G>T | XP_006714742.1:p.Trp336Cys | |
| XM_006714680.2:c.1101G>T | XP_006714743.1:p.Trp367Cys | |
| XM_006714682.2:c.1101G>T | XP_006714745.1:p.Trp367Cys | |
| XM_006714684.2:c.1008G>T | XP_006714747.1:p.Trp336Cys | |
| XM_006714685.2:c.756G>T | XP_006714748.1:p.Trp252Cys | |
| XM_006714686.2:c.663G>T | XP_006714749.1:p.Trp221Cys | |
| XM_006714687.2:c.495G>T | XP_006714750.1:p.Trp165Cys | |
| XM_011543604.1:c.1101G>T | XP_011541906.1:p.Trp367Cys | |
| XM_011543605.1:c.1101G>T | XP_011541907.1:p.Trp367Cys | |
| XM_011543606.1:c.1101G>T | XP_011541908.1:p.Trp367Cys | |
| XM_011543607.1:c.744G>T | XP_011541909.1:p.Trp248Cys | |
| XM_011543608.1:c.681G>T | XP_011541910.1:p.Trp227Cys | |
| XM_011543609.1:c.588G>T | XP_011541911.1:p.Trp196Cys | |
| XM_011543610.1:c.495G>T | XP_011541912.1:p.Trp165Cys | |
| XM_011543611.1:c.495G>T | XP_011541913.1:p.Trp165Cys | |
| XM_011543612.1:c.588G>T | XP_011541914.1:p.Trp196Cys | |
| XM_011543613.1:c.402G>T | XP_011541915.1:p.Trp134Cys | |
| XR_948292.1:n.1265G>T | ||
| XR_948293.1:n.1265G>T | ||
| NM_001134851.3:c.663G>T | NP_001128323.2:p.Trp221Cys | |
| NM_001346425.1:c.1101G>T | NP_001333354.1:p.Trp367Cys | |
| NM_001346450.1:c.756G>T | NP_001333379.1:p.Trp252Cys | |
| NM_001366502.1:c.588G>T | NP_001353431.1:p.Trp196Cys | |
| NM_003202.4:c.1008G>T | NP_003193.2:p.Trp336Cys | |
| NM_201632.4:c.663G>T | NP_963963.1:p.Trp221Cys | |
| NM_201634.4:c.663G>T | NP_963965.1:p.Trp221Cys | |
| NM_213648.4:c.663G>T | NP_998813.1:p.Trp221Cys | |
| NR_033449.2:n.1091G>T | ||
| XM_006714678.3:c.1101G>T | XP_006714741.1:p.Trp367Cys | |
| XM_006714679.3:c.1008G>T | XP_006714742.1:p.Trp336Cys | |
| XM_006714685.4:c.756G>T | XP_006714748.1:p.Trp252Cys | |
| XM_006714686.4:c.663G>T | XP_006714749.1:p.Trp221Cys | |
| XM_011543604.2:c.1101G>T | XP_011541906.1:p.Trp367Cys | |
| XM_011543607.2:c.744G>T | XP_011541909.1:p.Trp248Cys | |
| XM_011543608.2:c.681G>T | XP_011541910.1:p.Trp227Cys | |
| XM_011543609.2:c.588G>T | XP_011541911.1:p.Trp196Cys | |
| XM_011543613.3:c.402G>T | XP_011541915.1:p.Trp134Cys | |
| XM_017009790.1:c.495G>T | XP_016865279.1:p.Trp165Cys | |
| NM_003202.5:c.1008G>T MANE Select | NP_003193.2:p.Trp336Cys | |
| NM_001134851.4:c.663G>T | NP_001128323.2:p.Trp221Cys | |
| NM_001346425.2:c.1101G>T | NP_001333354.1:p.Trp367Cys | |
| NM_001346450.2:c.756G>T | NP_001333379.1:p.Trp252Cys | |
| NM_201632.5:c.663G>T | NP_963963.1:p.Trp221Cys | |
| NM_201634.5:c.663G>T | NP_963965.1:p.Trp221Cys | |
| NM_213648.5:c.663G>T | NP_998813.1:p.Trp221Cys | |
| NR_033449.3:n.1041G>T | ||
| NM_001366502.2:c.588G>T | NP_001353431.1:p.Trp196Cys |