Revel Score:
ENST00000369413 (MANE Select)
0.429
ENST00000235547
0.429
ENST00000528909
0.429
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119514535C>G , CM000663.2:g.119514535C>G | GRCh38 |
| NC_000001.10:g.120057158C>G , CM000663.1:g.120057158C>G | GRCh37 |
| NC_000001.9:g.119858681C>G | NCBI36 |
| NG_050909.1:g.12424C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369413.8:c.1012C>G MANE Select | ENSP00000358421.3:p.Leu338Val | |
| ENST00000369413.7:c.1012C>G | ENSP00000358421.3:p.Leu338Val | |
| ENST00000528909.1:c.1012C>G | ENSP00000432268.1:p.Leu338Val | |
| NM_000862.2:c.1012C>G | NP_000853.1:p.Leu338Val | |
| XM_011541314.1:c.1018C>G | XP_011539616.1:p.Leu340Val | |
| NM_001328615.1:c.1012C>G | NP_001315544.1:p.Leu338Val | |
| NM_000862.3:c.1012C>G MANE Select | NP_000853.1:p.Leu338Val |