HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151837G>T , CM000681.2:g.55151837G>T | GRCh38 |
NC_000019.9:g.55663205G>T , CM000681.1:g.55663205G>T | GRCh37 |
NC_000019.8:g.60355017G>T | NCBI36 |
NG_007866.2:g.10896C>A , LRG_432:g.10896C>A | |
NG_011829.2:g.2402C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.630C>A MANE Select | ENSP00000341838.5:p.Ser210Arg | |
ENST00000665070.1:c.663C>A | ENSP00000499482.1:p.Ser221Arg | |
ENST00000344887.9:c.630C>A | ENSP00000341838.5:p.Ser210Arg | |
ENST00000585806.5:n.629C>A | ||
ENST00000588882.1:c.555C>A | ENSP00000466729.1:p.Ser185Arg | |
ENST00000589864.1:n.458C>A | ||
NM_000363.4:c.630C>A , LRG_432t1:c.630C>A | NP_000354.4:p.Ser210Arg | |
NM_000363.5:c.630C>A MANE Select | NP_000354.4:p.Ser210Arg |