HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151870A>C , CM000681.2:g.55151870A>C | GRCh38 |
NC_000019.9:g.55663238A>C , CM000681.1:g.55663238A>C | GRCh37 |
NC_000019.8:g.60355050A>C | NCBI36 |
NG_007866.2:g.10863T>G , LRG_432:g.10863T>G | |
NG_011829.2:g.2369T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.597T>G MANE Select | ENSP00000341838.5:p.Ser199Arg | |
ENST00000665070.1:c.630T>G | ENSP00000499482.1:p.Ser210Arg | |
ENST00000344887.9:c.597T>G | ENSP00000341838.5:p.Ser199Arg | |
ENST00000585806.5:n.596T>G | ||
ENST00000588882.1:c.522T>G | ENSP00000466729.1:p.Ser174Arg | |
ENST00000589864.1:n.425T>G | ||
NM_000363.4:c.597T>G , LRG_432t1:c.597T>G | NP_000354.4:p.Ser199Arg | |
NM_000363.5:c.597T>G MANE Select | NP_000354.4:p.Ser199Arg |