Revel Score:
ENST00000375448 (MANE Select)
0.080
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17342111C>G , CM000663.2:g.17342111C>G | GRCh38 |
| NC_000001.10:g.17668606C>G , CM000663.1:g.17668606C>G | GRCh37 |
| NC_000001.9:g.17541193C>G | NCBI36 |
| NG_023261.2:g.38922C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.821C>G MANE Select | ENSP00000364597.4:p.Thr274Arg | |
| NM_012387.2:c.821C>G | NP_036519.2:p.Thr274Arg | |
| XM_011541150.1:c.635C>G | XP_011539452.1:p.Thr212Arg | |
| XM_011541151.1:c.821C>G | XP_011539453.1:p.Thr274Arg | |
| XM_011541152.1:c.284C>G | XP_011539454.1:p.Thr95Arg | |
| XM_011541153.1:c.821C>G | XP_011539455.1:p.Thr274Arg | |
| XM_011541154.1:c.821C>G | XP_011539456.1:p.Thr274Arg | |
| XM_011541155.1:c.821C>G | XP_011539457.1:p.Thr274Arg | |
| XM_011541156.1:c.821C>G | XP_011539458.1:p.Thr274Arg | |
| XM_011541157.1:c.-60-188C>G | XP_011539459.1:n.-60-188C>G | |
| XM_011541154.2:c.821C>G | XP_011539456.1:p.Thr274Arg | |
| NM_012387.3:c.821C>G MANE Select | NP_036519.2:p.Thr274Arg |