HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38401406T>G , CM000685.2:g.38401406T>G | GRCh38 |
NC_000023.10:g.38260659T>G , CM000685.1:g.38260659T>G | GRCh37 |
NC_000023.9:g.38145603T>G | NCBI36 |
NG_008471.1:g.53924T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.518T>G MANE Select | ENSP00000039007.4:p.Leu173Arg | |
ENST00000643344.1:c.*268T>G | ENSP00000496606.1:n.*268T>G | |
ENST00000039007.4:c.518T>G | ENSP00000039007.4:p.Leu173Arg | |
ENST00000465127.1:c.172-264715T>G | ENSP00000417050.1:n.172-264715T>G | |
ENST00000488812.1:n.555T>G | ||
NM_000531.5:c.518T>G | NP_000522.3:p.Leu173Arg | |
XM_017029556.1:c.518T>G | XP_016885045.1:p.Leu173Arg | |
NM_000531.6:c.518T>G MANE Select | NP_000522.3:p.Leu173Arg |