HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44288384C>T , CM000683.2:g.44288384C>T | GRCh38 |
NC_000021.8:g.45708267C>T , CM000683.1:g.45708267C>T | GRCh37 |
NC_000021.7:g.44532695C>T | NCBI36 |
NG_009556.1:g.7505C>T , LRG_18:g.7505C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.578C>T MANE Select | ENSP00000291582.5:p.Ala193Val | |
ENST00000291582.5:c.578C>T | ENSP00000291582.5:p.Ala193Val | |
ENST00000527919.5:n.1122C>T | ||
ENST00000530812.5:n.1130C>T | ||
NM_000383.3:c.578C>T | NP_000374.1:p.Ala193Val | |
XM_011529551.1:c.578C>T | XP_011527853.1:p.Ala193Val | |
NM_000383.4:c.578C>T MANE Select | NP_000374.1:p.Ala193Val |