HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11965488C>A , CM000663.2:g.11965488C>A | GRCh38 |
NC_000001.10:g.12025545C>A , CM000663.1:g.12025545C>A | GRCh37 |
NC_000001.9:g.11948132C>A | NCBI36 |
NG_008159.1:g.35800C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000196061.5:c.1479C>A MANE Select | ENSP00000196061.4:p.Phe493Leu | |
ENST00000196061.4:c.1479C>A | ENSP00000196061.4:p.Phe493Leu | |
ENST00000470133.1:n.93C>A | ||
ENST00000491536.5:n.107C>A | ||
NM_000302.3:c.1479C>A | NP_000293.2:p.Phe493Leu | |
NM_001316320.1:c.1620C>A | NP_001303249.1:p.Phe540Leu | |
XM_011541594.1:c.1560C>A | XP_011539896.1:p.Phe520Leu | |
XM_024447707.1:c.813C>A | XP_024303475.1:p.Phe271Leu | |
NM_000302.4:c.1479C>A MANE Select | NP_000293.2:p.Phe493Leu | |
NM_001316320.2:c.1620C>A | NP_001303249.1:p.Phe540Leu |