HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154196A>C , CM000681.2:g.55154196A>C | GRCh38 |
NC_000019.9:g.55665564A>C , CM000681.1:g.55665564A>C | GRCh37 |
NC_000019.8:g.60357376A>C | NCBI36 |
NG_007866.2:g.8537T>G , LRG_432:g.8537T>G | |
NG_011829.2:g.43T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.383T>G MANE Select | ENSP00000341838.5:p.Leu128Arg | |
ENST00000665070.1:c.416T>G | ENSP00000499482.1:p.Leu139Arg | |
ENST00000344887.9:c.383T>G | ENSP00000341838.5:p.Leu128Arg | |
ENST00000585806.5:n.382T>G | ||
ENST00000586669.5:n.391T>G | ||
ENST00000588882.1:c.308T>G | ENSP00000466729.1:p.Leu103Arg | |
ENST00000589864.1:n.211T>G | ||
NM_000363.4:c.383T>G , LRG_432t1:c.383T>G | NP_000354.4:p.Leu128Arg | |
NM_000363.5:c.383T>G MANE Select | NP_000354.4:p.Leu128Arg |