HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11965532T>G , CM000663.2:g.11965532T>G | GRCh38 |
NC_000001.10:g.12025589T>G , CM000663.1:g.12025589T>G | GRCh37 |
NC_000001.9:g.11948176T>G | NCBI36 |
NG_008159.1:g.35844T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000196061.5:c.1523T>G MANE Select | ENSP00000196061.4:p.Leu508Arg | |
ENST00000196061.4:c.1523T>G | ENSP00000196061.4:p.Leu508Arg | |
ENST00000470133.1:n.137T>G | ||
ENST00000491536.5:n.151T>G | ||
NM_000302.3:c.1523T>G | NP_000293.2:p.Leu508Arg | |
NM_001316320.1:c.1664T>G | NP_001303249.1:p.Leu555Arg | |
XM_011541594.1:c.1604T>G | XP_011539896.1:p.Leu535Arg | |
XM_024447707.1:c.857T>G | XP_024303475.1:p.Leu286Arg | |
NM_000302.4:c.1523T>G MANE Select | NP_000293.2:p.Leu508Arg | |
NM_001316320.2:c.1664T>G | NP_001303249.1:p.Leu555Arg |