HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675828C>G , CM000685.2:g.38675828C>G | GRCh38 |
NC_000023.10:g.38535082C>G , CM000685.1:g.38535082C>G | GRCh37 |
NC_000023.9:g.38420026C>G | NCBI36 |
NG_009160.1:g.119352C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.565C>G MANE Select | ENSP00000367743.2:p.Leu189Val | |
ENST00000286824.6:c.616C>G | ENSP00000286824.6:p.Leu206Val | |
ENST00000378482.6:c.565C>G | ENSP00000367743.2:p.Leu189Val | |
ENST00000419600.3:n.509C>G | ||
ENST00000465127.1:c.655C>G | ENSP00000417050.1:p.Leu219Val | |
ENST00000471410.5:c.*591C>G | ENSP00000419290.1:n.*591C>G | |
ENST00000475216.5:c.*558C>G | ENSP00000418586.1:n.*558C>G | |
NM_004615.3:c.565C>G | NP_004606.2:p.Leu189Val | |
NM_004615.4:c.565C>G MANE Select | NP_004606.2:p.Leu189Val |