HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11965497G= , CM000663.2:g.11965497G= | GRCh38 |
NC_000001.10:g.12025554G= , CM000663.1:g.12025554G= | GRCh37 |
NC_000001.9:g.11948141G= | NCBI36 |
NG_008159.1:g.35809G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000196061.5:c.1488G= MANE Select | ENSP00000196061.4:p.Leu496= | |
ENST00000196061.4:c.1488G= | ENSP00000196061.4:p.Leu496= | |
ENST00000470133.1:n.102G= | ||
ENST00000491536.5:n.116G= | ||
NM_000302.3:c.1488G= | NP_000293.2:p.Leu496= | |
NM_001316320.1:c.1629G= | NP_001303249.1:p.Leu543= | |
XM_011541594.1:c.1569G= | XP_011539896.1:p.Leu523= | |
XM_024447707.1:c.822G= | XP_024303475.1:p.Leu274= | |
NM_000302.4:c.1488G= MANE Select | NP_000293.2:p.Leu496= | |
NM_001316320.2:c.1629G= | NP_001303249.1:p.Leu543= |