HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154770C>A , CM000668.2:g.3154770C>A | GRCh38 |
NC_000006.11:g.3155004C>A , CM000668.1:g.3155004C>A | GRCh37 |
NC_000006.10:g.3100003C>A | NCBI36 |
NG_042223.1:g.7780G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.431G>T MANE Select | ENSP00000369703.2:p.Gly144Val | |
ENST00000679400.1:n.487G>T | ||
ENST00000679907.1:n.819G>T | ||
ENST00000680036.1:n.1213G>T | ||
ENST00000680967.1:n.1521G>T | ||
ENST00000333628.3:c.431G>T | ENSP00000369703.2:p.Gly144Val | |
ENST00000489942.1:n.626G>T | ||
NM_001069.2:c.431G>T | NP_001060.1:p.Gly144Val | |
NM_001310315.1:c.176G>T | NP_001297244.1:p.Gly59Val | |
NM_001069.3:c.431G>T MANE Select | NP_001060.1:p.Gly144Val | |
NM_001310315.2:c.176G>T | NP_001297244.1:p.Gly59Val |