HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169525958C>G , CM000663.2:g.169525958C>G | GRCh38 |
NC_000001.10:g.169495196C>G , CM000663.1:g.169495196C>G | GRCh37 |
NC_000001.9:g.167761820C>G | NCBI36 |
NG_011806.1:g.65574G>C , LRG_553:g.65574G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.5659G>C MANE Select | ENSP00000356771.3:p.Glu1887Gln | |
ENST00000367796.3:c.5674G>C | ENSP00000356770.3:p.Glu1892Gln | |
ENST00000367797.7:c.5659G>C | ENSP00000356771.3:p.Glu1887Gln | |
NM_000130.4:c.5659G>C , LRG_553t1:c.5659G>C | NP_000121.2:p.Glu1887Gln | |
XM_017000660.2:c.5248G>C | XP_016856149.1:p.Glu1750Gln | |
NM_000130.5:c.5659G>C MANE Select | NP_000121.2:p.Glu1887Gln |