HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44288347A>C , CM000683.2:g.44288347A>C | GRCh38 |
NC_000021.8:g.45708230A>C , CM000683.1:g.45708230A>C | GRCh37 |
NC_000021.7:g.44532658A>C | NCBI36 |
NG_009556.1:g.7468A>C , LRG_18:g.7468A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.541A>C MANE Select | ENSP00000291582.5:p.Ile181Leu | |
ENST00000291582.5:c.541A>C | ENSP00000291582.5:p.Ile181Leu | |
ENST00000527919.5:n.1085A>C | ||
ENST00000530812.5:n.1093A>C | ||
NM_000383.3:c.541A>C | NP_000374.1:p.Ile181Leu | |
XM_011529551.1:c.541A>C | XP_011527853.1:p.Ile181Leu | |
NM_000383.4:c.541A>C MANE Select | NP_000374.1:p.Ile181Leu |