HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119014C>A , CM000667.2:g.111119014C>A | GRCh38 |
NC_000005.9:g.110454712C>A , CM000667.1:g.110454712C>A | GRCh37 |
NC_000005.8:g.110482611C>A | NCBI36 |
NG_008979.1:g.31843C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000513710.4:c.1798C>A MANE Select | ENSP00000424628.3:p.Leu600Ile | |
ENST00000506538.6:c.1966C>A | ENSP00000423067.2:p.Leu656Ile | |
ENST00000513710.3:c.1798C>A | ENSP00000424628.3:p.Leu600Ile | |
ENST00000612402.4:c.1966C>A | ENSP00000479950.1:p.Leu656Ile | |
NM_139281.2:c.1966C>A | NP_644810.1:p.Leu656Ile | |
XM_011543163.1:c.1966C>A | XP_011541465.1:p.Leu656Ile | |
NM_139281.3:c.1798C>A MANE Select | NP_644810.2:p.Leu600Ile |