HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169552719C>A , CM000663.2:g.169552719C>A | GRCh38 |
NC_000001.10:g.169521957C>A , CM000663.1:g.169521957C>A | GRCh37 |
NC_000001.9:g.167788581C>A | NCBI36 |
NG_011806.1:g.38813G>T , LRG_553:g.38813G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1134G>T MANE Select | ENSP00000356771.3:p.Gln378His | |
ENST00000367796.3:c.1134G>T | ENSP00000356770.3:p.Gln378His | |
ENST00000367797.7:c.1134G>T | ENSP00000356771.3:p.Gln378His | |
NM_000130.4:c.1134G>T , LRG_553t1:c.1134G>T | NP_000121.2:p.Gln378His | |
XM_017000660.2:c.723G>T | XP_016856149.1:p.Gln241His | |
NM_000130.5:c.1134G>T MANE Select | NP_000121.2:p.Gln378His |