HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169541815C>T , CM000663.2:g.169541815C>T | GRCh38 |
NC_000001.10:g.169511053C>T , CM000663.1:g.169511053C>T | GRCh37 |
NC_000001.9:g.167777677C>T | NCBI36 |
NG_011806.1:g.49717G>A , LRG_553:g.49717G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.3275G>A MANE Select | ENSP00000356771.3:p.Gly1092Asp | |
ENST00000367796.3:c.3290G>A | ENSP00000356770.3:p.Gly1097Asp | |
ENST00000367797.7:c.3275G>A | ENSP00000356771.3:p.Gly1092Asp | |
NM_000130.4:c.3275G>A , LRG_553t1:c.3275G>A | NP_000121.2:p.Gly1092Asp | |
XM_017000660.2:c.2864G>A | XP_016856149.1:p.Gly955Asp | |
NM_000130.5:c.3275G>A MANE Select | NP_000121.2:p.Gly1092Asp |