Revel Score:
ENST00000308742 (MANE Select)
0.106
ENST00000551464
0.106
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.38318340C>A , CM000674.2:g.38318340C>A | GRCh38 |
| NC_000012.11:g.38712142C>A , CM000674.1:g.38712142C>A | GRCh37 |
| NC_000012.10:g.36998409C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308742.9:c.251C>A MANE Select | ENSP00000310120.4:p.Ala84Glu | |
| ENST00000308742.8:c.251C>A | ENSP00000310120.4:p.Ala84Glu | |
| ENST00000548240.1:c.225C>A | ENSP00000449210.1:p.Cys75Ter | |
| ENST00000551464.1:c.251C>A | ENSP00000448819.1:p.Ala84Glu | |
| ENST00000553138.1:n.1574C>A | ||
| XM_005268665.3:c.71C>A | XP_005268722.1:p.Ala24Glu | |
| XM_006719243.2:c.71C>A | XP_006719306.1:p.Ala24Glu | |
| XM_005268665.4:c.71C>A | XP_005268722.1:p.Ala24Glu | |
| NM_001013620.4:c.251C>A MANE Select | NP_001013642.2:p.Ala84Glu | |
| NM_001308340.2:c.251C>A | NP_001295269.2:p.Ala84Glu |