HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116835G>T , CM000669.2:g.19116835G>T | GRCh38 |
NC_000007.13:g.19156458G>T , CM000669.1:g.19156458G>T | GRCh37 |
NC_000007.12:g.19122983G>T | NCBI36 |
NG_008114.1:g.5838C>A | |
NG_008114.2:g.5838C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.487C>A MANE Select | ENSP00000242261.5:p.Leu163Ile | |
ENST00000242261.5:c.487C>A | ENSP00000242261.5:p.Leu163Ile | |
ENST00000354571.5:c.284C>A | ||
ENST00000443687.5:c.90C>A | ||
NM_000474.3:c.487C>A | NP_000465.1:p.Leu163Ile | |
XM_011515496.1:c.487C>A | XP_011513798.1:p.Leu163Ile | |
NR_149001.1:n.838C>A | ||
NM_000474.4:c.487C>A MANE Select | NP_000465.1:p.Leu163Ile | |
NR_149001.2:n.802C>A |