HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151871C>A , CM000681.2:g.55151871C>A | GRCh38 |
NC_000019.9:g.55663239C>A , CM000681.1:g.55663239C>A | GRCh37 |
NC_000019.8:g.60355051C>A | NCBI36 |
NG_007866.2:g.10862G>T , LRG_432:g.10862G>T | |
NG_011829.2:g.2368G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.596G>T MANE Select | ENSP00000341838.5:p.Ser199Ile | |
ENST00000665070.1:c.629G>T | ENSP00000499482.1:p.Ser210Ile | |
ENST00000344887.9:c.596G>T | ENSP00000341838.5:p.Ser199Ile | |
ENST00000585806.5:n.595G>T | ||
ENST00000588882.1:c.521G>T | ENSP00000466729.1:p.Ser174Ile | |
ENST00000589864.1:n.424G>T | ||
NM_000363.4:c.596G>T , LRG_432t1:c.596G>T | NP_000354.4:p.Ser199Ile | |
NM_000363.5:c.596G>T MANE Select | NP_000354.4:p.Ser199Ile |