Revel Score:
ENST00000374552 (MANE Select)
0.833
ENST00000374553
0.833
ENST00000524573
0.833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70035394G>A , CM000685.2:g.70035394G>A | GRCh38 |
| NC_000023.10:g.69255244G>A , CM000685.1:g.69255244G>A | GRCh37 |
| NC_000023.9:g.69171969G>A | NCBI36 |
| NG_009809.1:g.424334G>A | |
| NG_009809.2:g.424328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.961G>A MANE Select | ENSP00000363680.4:p.Glu321Lys | |
| ENST00000374552.8:c.961G>A | ENSP00000363680.4:p.Glu321Lys | |
| ENST00000374553.6:c.955G>A | ENSP00000363681.2:p.Glu319Lys | |
| ENST00000524573.5:c.946G>A | ENSP00000432585.1:p.Glu316Lys | |
| ENST00000616899.1:c.565G>A | ENSP00000481963.1:p.Glu189Lys | |
| NM_001005609.1:c.955G>A | NP_001005609.1:p.Glu319Lys | |
| NM_001005612.2:c.946G>A | NP_001005612.2:p.Glu316Lys | |
| NM_001399.4:c.961G>A | NP_001390.1:p.Glu321Lys | |
| XM_006724630.2:c.952G>A | XP_006724693.1:p.Glu318Lys | |
| XM_017029336.1:c.919G>A | XP_016884825.1:p.Glu307Lys | |
| NM_001399.5:c.961G>A MANE Select | NP_001390.1:p.Glu321Lys | |
| NM_001005609.2:c.955G>A | NP_001005609.1:p.Glu319Lys | |
| NM_001005612.3:c.946G>A | NP_001005612.2:p.Glu316Lys |