Revel Score:
ENST00000268124 (MANE Select)
0.731
ENST00000442287
0.731
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89327004T>C , CM000677.2:g.89327004T>C | GRCh38 |
| NC_000015.9:g.89870235T>C , CM000677.1:g.89870235T>C | GRCh37 |
| NC_000015.8:g.87671239T>C | NCBI36 |
| NG_008218.1:g.12792A>G | |
| NG_008218.2:g.12792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1493A>G | ENSP00000516154.1:p.Lys498Arg | |
| ENST00000268124.11:c.1493A>G MANE Select | ENSP00000268124.5:p.Lys498Arg | |
| ENST00000530292.3:c.1094A>G | ENSP00000432885.2:p.Lys365Arg | |
| ENST00000635986.2:c.1493A>G | ENSP00000490653.2:p.Lys498Arg | |
| ENST00000636774.1:c.*60A>G | ENSP00000489799.1:n.*60A>G | |
| ENST00000637238.1:c.230A>G | ENSP00000490756.1:p.Lys77Arg | |
| ENST00000637264.1:c.565A>G | ||
| ENST00000666746.1:c.1070A>G | ||
| ENST00000672071.1:n.1691A>G | ||
| ENST00000672923.2:n.1596A>G | ||
| ENST00000268124.9:c.1493A>G | ENSP00000268124.5:p.Lys498Arg | |
| ENST00000442287.6:c.1493A>G | ENSP00000399851.2:p.Lys498Arg | |
| ENST00000631044.2:c.*876A>G | ENSP00000486730.1:n.*876A>G | |
| NM_001126131.1:c.1493A>G | NP_001119603.1:p.Lys498Arg | |
| NM_002693.2:c.1493A>G | NP_002684.1:p.Lys498Arg | |
| NM_001126131.2:c.1493A>G | NP_001119603.1:p.Lys498Arg | |
| NM_002693.3:c.1493A>G MANE Select | NP_002684.1:p.Lys498Arg |