HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454348T>G , CM000679.2:g.7454348T>G | GRCh38 |
NC_000017.10:g.7357667T>G , CM000679.1:g.7357667T>G | GRCh37 |
NC_000017.9:g.7298391T>G | NCBI36 |
NG_008026.1:g.14262T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.872T>G MANE Select | ENSP00000304290.2:p.Leu291Arg | |
ENST00000306071.6:c.872T>G | ENSP00000304290.2:p.Leu291Arg | |
ENST00000536404.6:c.656T>G | ENSP00000439209.2:p.Leu219Arg | |
ENST00000570557.5:c.535T>G | ||
ENST00000573209.1:n.1816T>G | ||
ENST00000576360.1:c.605-96T>G | ENSP00000459092.1:n.605-96T>G | |
NM_000747.2:c.872T>G | NP_000738.2:p.Leu291Arg | |
NM_000747.3:c.872T>G MANE Select | NP_000738.2:p.Leu291Arg |