HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44287032C>G , CM000683.2:g.44287032C>G | GRCh38 |
NC_000021.8:g.45706915C>G , CM000683.1:g.45706915C>G | GRCh37 |
NC_000021.7:g.44531343C>G | NCBI36 |
NG_009556.1:g.6153C>G , LRG_18:g.6153C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.362C>G MANE Select | ENSP00000291582.5:p.Ala121Gly | |
ENST00000291582.5:c.362C>G | ENSP00000291582.5:p.Ala121Gly | |
ENST00000527919.5:n.523C>G | ||
ENST00000530812.5:n.531C>G | ||
NM_000383.3:c.362C>G | NP_000374.1:p.Ala121Gly | |
XM_011529551.1:c.362C>G | XP_011527853.1:p.Ala121Gly | |
NM_000383.4:c.362C>G MANE Select | NP_000374.1:p.Ala121Gly |