Revel Score:
ENST00000455537 (MANE Select)
0.890
ENST00000286452
0.890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569283A>G , CM000674.2:g.57569283A>G | GRCh38 |
| NC_000012.11:g.57963066A>G , CM000674.1:g.57963066A>G | GRCh37 |
| NC_000012.10:g.56249333A>G | NCBI36 |
| NG_008155.1:g.24220A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.847A>G MANE Select | ENSP00000408979.2:p.Lys283Glu | |
| ENST00000674619.1:c.847A>G | ENSP00000502270.1:p.Lys283Glu | |
| ENST00000676457.1:c.742A>G | ENSP00000501588.1:p.Lys248Glu | |
| ENST00000286452.5:c.580A>G | ENSP00000286452.5:p.Lys194Glu | |
| ENST00000455537.6:c.847A>G | ENSP00000408979.2:p.Lys283Glu | |
| NM_004984.2:c.847A>G | NP_004975.2:p.Lys283Glu | |
| NM_001354705.1:c.580A>G | NP_001341634.1:p.Lys194Glu | |
| NM_004984.3:c.847A>G | NP_004975.2:p.Lys283Glu | |
| XR_002957324.1:n.1080A>G | ||
| NM_004984.4:c.847A>G MANE Select | NP_004975.2:p.Lys283Glu | |
| NM_001354705.2:c.580A>G | NP_001341634.1:p.Lys194Glu |