HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154061A>C , CM000681.2:g.55154061A>C | GRCh38 |
NC_000019.9:g.55665429A>C , CM000681.1:g.55665429A>C | GRCh37 |
NC_000019.8:g.60357241A>C | NCBI36 |
NG_007866.2:g.8672T>G , LRG_432:g.8672T>G | |
NG_011829.2:g.178T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.518T>G MANE Select | ENSP00000341838.5:p.Leu173Arg | |
ENST00000665070.1:c.551T>G | ENSP00000499482.1:p.Leu184Arg | |
ENST00000344887.9:c.518T>G | ENSP00000341838.5:p.Leu173Arg | |
ENST00000585806.5:n.517T>G | ||
ENST00000588882.1:c.443T>G | ENSP00000466729.1:p.Leu148Arg | |
ENST00000589864.1:n.346T>G | ||
NM_000363.4:c.518T>G , LRG_432t1:c.518T>G | NP_000354.4:p.Leu173Arg | |
NM_000363.5:c.518T>G MANE Select | NP_000354.4:p.Leu173Arg |