HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44291194C>A , CM000683.2:g.44291194C>A | GRCh38 |
NC_000021.8:g.45711077C>A , CM000683.1:g.45711077C>A | GRCh37 |
NC_000021.7:g.44535505C>A | NCBI36 |
NG_009556.1:g.10315C>A , LRG_18:g.10315C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.979C>A MANE Select | ENSP00000291582.5:p.Leu327Ile | |
ENST00000291582.5:c.979C>A | ENSP00000291582.5:p.Leu327Ile | |
ENST00000337909.5:n.440C>A | ||
ENST00000397994.8:n.440C>A | ||
ENST00000527919.5:n.1709C>A | ||
ENST00000530812.5:n.2726C>A | ||
NM_000383.3:c.979C>A | NP_000374.1:p.Leu327Ile | |
XM_011529551.1:c.976C>A | XP_011527853.1:p.Leu326Ile | |
NM_000383.4:c.979C>A MANE Select | NP_000374.1:p.Leu327Ile |