Revel Score:
ENST00000374552 (MANE Select)
0.948
ENST00000374553
0.948
ENST00000524573
0.948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70033475G>A , CM000685.2:g.70033475G>A | GRCh38 |
| NC_000023.10:g.69253325G>A , CM000685.1:g.69253325G>A | GRCh37 |
| NC_000023.9:g.69170050G>A | NCBI36 |
| NG_009809.1:g.422415G>A | |
| NG_009809.2:g.422409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.871G>A MANE Select | ENSP00000363680.4:p.Gly291Arg | |
| ENST00000374552.8:c.871G>A | ENSP00000363680.4:p.Gly291Arg | |
| ENST00000374553.6:c.871G>A | ENSP00000363681.2:p.Gly291Arg | |
| ENST00000524573.5:c.862G>A | ENSP00000432585.1:p.Gly288Arg | |
| ENST00000616899.1:c.475G>A | ENSP00000481963.1:p.Gly159Arg | |
| NM_001005609.1:c.871G>A | NP_001005609.1:p.Gly291Arg | |
| NM_001005612.2:c.862G>A | NP_001005612.2:p.Gly288Arg | |
| NM_001399.4:c.871G>A | NP_001390.1:p.Gly291Arg | |
| XM_006724630.2:c.862G>A | XP_006724693.1:p.Gly288Arg | |
| XM_011530885.1:c.871G>A | XP_011529187.1:p.Gly291Arg | |
| XM_011530885.2:c.871G>A | XP_011529187.1:p.Gly291Arg | |
| XM_017029336.1:c.871G>A | XP_016884825.1:p.Gly291Arg | |
| NM_001399.5:c.871G>A MANE Select | NP_001390.1:p.Gly291Arg | |
| NM_001005609.2:c.871G>A | NP_001005609.1:p.Gly291Arg | |
| NM_001005612.3:c.862G>A | NP_001005612.2:p.Gly288Arg |