HGVS | Genome Assembly |
---|---|
NC_000004.12:g.42963193C>G , CM000666.2:g.42963193C>G | GRCh38 |
NC_000004.11:g.42965210C>G , CM000666.1:g.42965210C>G | GRCh37 |
NC_000004.10:g.42659967C>G | NCBI36 |
NG_027718.1:g.74928C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399770.3:c.627+59C>G MANE Select | ENSP00000382670.2:n.627+59C>G | |
ENST00000399770.2:c.627+59C>G | ENSP00000382670.2:n.627+59C>G | |
NM_001080476.2:c.627+59C>G | NP_001073945.1:n.627+59C>G | |
XM_011513691.1:c.264+59C>G | XP_011511993.1:n.264+59C>G | |
NM_001080476.3:c.627+59C>G MANE Select | NP_001073945.1:n.627+59C>G |