Revel Score:
ENST00000311895 (MANE Select)
0.799
ENST00000389138
0.799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947665A>G , CM000678.2:g.13947665A>G | GRCh38 |
| NC_000016.9:g.14041522A>G , CM000678.1:g.14041522A>G | GRCh37 |
| NC_000016.8:g.13949023A>G | NCBI36 |
| NG_011442.1:g.32509A>G , LRG_463:g.32509A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2207A>G | ENSP00000507912.1:p.Glu736Gly | |
| ENST00000683962.1:c.*1763A>G | ENSP00000506854.1:n.*1763A>G | |
| ENST00000311895.8:c.2069A>G MANE Select | ENSP00000310520.7:p.Glu690Gly | |
| ENST00000311895.7:c.2069A>G | ENSP00000310520.7:p.Glu690Gly | |
| ENST00000389138.7:n.1346A>G | ||
| ENST00000462862.1:c.382A>G | ENSP00000461322.1:n.382A>G | |
| NM_005236.2:c.2069A>G , LRG_463t1:c.2069A>G | NP_005227.1:p.Glu690Gly | |
| XM_011522424.1:c.2207A>G | XP_011520726.1:p.Glu736Gly | |
| XM_011522425.1:c.1526A>G | XP_011520727.1:p.Glu509Gly | |
| XM_011522426.1:c.1280A>G | XP_011520728.1:p.Glu427Gly | |
| XM_011522427.1:c.719A>G | XP_011520729.1:p.Glu240Gly | |
| XR_932805.1:n.2228A>G | ||
| XM_011522424.3:c.2207A>G | XP_011520726.1:p.Glu736Gly | |
| XM_017023043.2:c.1280A>G | XP_016878532.1:p.Glu427Gly | |
| NM_005236.3:c.2069A>G MANE Select | NP_005227.1:p.Glu690Gly |