Revel Score:
ENST00000369409
0.964
ENST00000537497
0.964
ENST00000369407
0.964
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119737114G>A , CM000663.2:g.119737114G>A | GRCh38 |
| NC_000001.10:g.120279737G>A , CM000663.1:g.120279737G>A | GRCh37 |
| NC_000001.9:g.120081260G>A | NCBI36 |
| NG_009188.1:g.30319G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.793G>A | ENSP00000358417.5:p.Glu265Lys | |
| ENST00000469443.2:n.613G>A | ||
| ENST00000641023.2:c.793G>A MANE Select | ENSP00000493175.1:p.Glu265Lys | |
| ENST00000641074.1:c.793G>A | ENSP00000493446.1:p.Glu265Lys | |
| ENST00000641115.1:c.793G>A | ENSP00000493264.1:p.Glu265Lys | |
| ENST00000641213.1:c.*446G>A | ENSP00000493079.1:n.*446G>A | |
| ENST00000641314.1:n.778G>A | ||
| ENST00000641375.1:c.*629G>A | ENSP00000493089.1:n.*629G>A | |
| ENST00000641597.1:c.793G>A | ENSP00000493382.1:p.Glu265Lys | |
| ENST00000641756.1:c.*537G>A | ENSP00000493147.1:n.*537G>A | |
| ENST00000641811.1:c.549G>A | ||
| ENST00000641891.1:c.*619G>A | ENSP00000493288.1:n.*619G>A | |
| ENST00000641927.1:n.733G>A | ||
| ENST00000641947.1:c.793G>A | ENSP00000492994.1:p.Glu265Lys | |
| ENST00000642021.1:n.915G>A | ||
| ENST00000369407.3:c.691G>A | ENSP00000358415.3:p.Glu231Lys | |
| ENST00000369409.8:c.793G>A | ENSP00000358417.4:p.Glu265Lys | |
| NM_006623.3:c.793G>A | NP_006614.2:p.Glu265Lys | |
| XM_011541226.1:c.1015G>A | XP_011539528.1:p.Glu339Lys | |
| XM_011541227.1:c.937G>A | XP_011539529.1:p.Glu313Lys | |
| XM_011541228.1:c.904G>A | XP_011539530.1:p.Glu302Lys | |
| XM_011541229.1:c.730G>A | XP_011539531.1:p.Glu244Lys | |
| XM_011541230.1:c.508G>A | XP_011539532.1:p.Glu170Lys | |
| XM_011541231.1:c.499G>A | XP_011539533.1:p.Glu167Lys | |
| XM_011541226.2:c.1015G>A | XP_011539528.1:p.Glu339Lys | |
| XM_011541227.2:c.937G>A | XP_011539529.1:p.Glu313Lys | |
| XM_011541228.2:c.904G>A | XP_011539530.1:p.Glu302Lys | |
| XM_011541231.2:c.499G>A | XP_011539533.1:p.Glu167Lys | |
| XM_024446338.1:c.904G>A | XP_024302106.1:p.Glu302Lys | |
| NM_006623.4:c.793G>A MANE Select | NP_006614.2:p.Glu265Lys |