Revel Score:
ENST00000375547 (MANE Select)
0.921
ENST00000342783
0.921
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113160151G>A , CM000675.2:g.113160151G>A | GRCh38 |
| NC_000013.10:g.113814465G>A , CM000675.1:g.113814465G>A | GRCh37 |
| NC_000013.9:g.112862466G>A | NCBI36 |
| NG_031993.1:g.6498G>A | |
| NG_031993.2:g.6498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342783.5:c.274G>A | ENSP00000344458.4:p.Glu92Lys | |
| ENST00000375547.7:c.208G>A MANE Select | ENSP00000364697.2:p.Glu70Lys | |
| ENST00000342783.4:c.274G>A | ENSP00000344458.4:p.Glu92Lys | |
| ENST00000375547.6:c.208G>A | ENSP00000364697.2:p.Glu70Lys | |
| NM_001256134.1:c.274G>A | NP_001243063.1:p.Glu92Lys | |
| NM_003891.2:c.208G>A | NP_003882.1:p.Glu70Lys | |
| XM_011537525.1:c.418G>A | XP_011535827.1:p.Glu140Lys | |
| XM_017020812.1:c.409G>A | XP_016876301.1:p.Glu137Lys | |
| XM_017020813.1:c.274G>A | XP_016876302.1:p.Glu92Lys | |
| XR_001749707.1:n.395G>A | ||
| XR_001749708.1:n.395G>A | ||
| XR_001749709.1:n.395G>A | ||
| NM_003891.3:c.208G>A MANE Select | NP_003882.1:p.Glu70Lys | |
| NM_001256134.2:c.274G>A | NP_001243063.1:p.Glu92Lys |