HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169529747G>T , CM000663.2:g.169529747G>T | GRCh38 |
NC_000001.10:g.169498985G>T , CM000663.1:g.169498985G>T | GRCh37 |
NC_000001.9:g.167765609G>T | NCBI36 |
NG_011806.1:g.61785C>A , LRG_553:g.61785C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.5280C>A MANE Select | ENSP00000356771.3:p.Ser1760Arg | |
ENST00000367796.3:c.5295C>A | ENSP00000356770.3:p.Ser1765Arg | |
ENST00000367797.7:c.5280C>A | ENSP00000356771.3:p.Ser1760Arg | |
NM_000130.4:c.5280C>A , LRG_553t1:c.5280C>A | NP_000121.2:p.Ser1760Arg | |
XM_017000660.2:c.4869C>A | XP_016856149.1:p.Ser1623Arg | |
NM_000130.5:c.5280C>A MANE Select | NP_000121.2:p.Ser1760Arg |