HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455874T>G , CM000679.2:g.7455874T>G | GRCh38 |
NC_000017.10:g.7359193T>G , CM000679.1:g.7359193T>G | GRCh37 |
NC_000017.9:g.7299917T>G | NCBI36 |
NG_008026.1:g.15788T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1298T>G MANE Select | ENSP00000304290.2:p.Leu433Arg | |
ENST00000306071.6:c.1298T>G | ENSP00000304290.2:p.Leu433Arg | |
ENST00000536404.6:c.1082T>G | ENSP00000439209.2:p.Leu361Arg | |
ENST00000575379.1:c.-95T>G | ENSP00000461751.1:n.-95T>G | |
ENST00000576360.1:c.935T>G | ENSP00000459092.1:p.Leu312Arg | |
NM_000747.2:c.1298T>G | NP_000738.2:p.Leu433Arg | |
NM_000747.3:c.1298T>G MANE Select | NP_000738.2:p.Leu433Arg |