HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44291116G>A , CM000683.2:g.44291116G>A | GRCh38 |
NC_000021.8:g.45710999G>A , CM000683.1:g.45710999G>A | GRCh37 |
NC_000021.7:g.44535427G>A | NCBI36 |
NG_009556.1:g.10237G>A , LRG_18:g.10237G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000291582.6:c.901G>A MANE Select | ENSP00000291582.5:p.Val301Met | |
ENST00000291582.5:c.901G>A | ENSP00000291582.5:p.Val301Met | |
ENST00000337909.5:n.362G>A | ||
ENST00000397994.8:n.362G>A | ||
ENST00000527919.5:n.1631G>A | ||
ENST00000530812.5:n.2648G>A | ||
NM_000383.3:c.901G>A | NP_000374.1:p.Val301Met | |
XM_011529551.1:c.898G>A | XP_011527853.1:p.Val300Met | |
NM_000383.4:c.901G>A MANE Select | NP_000374.1:p.Val301Met |