HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31141445G>A , CM000670.2:g.31141445G>A | GRCh38 |
NC_000008.10:g.30998961G>A , CM000670.1:g.30998961G>A | GRCh37 |
NC_000008.9:g.31118503G>A | NCBI36 |
NG_008870.1:g.113184G>A , LRG_524:g.113184G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.2983G>A MANE Select | ENSP00000298139.5:p.Ala995Thr | |
ENST00000650667.1:c.*2597G>A | ENSP00000498593.1:n.*2597G>A | |
ENST00000298139.5:c.2983G>A | ENSP00000298139.5:p.Ala995Thr | |
ENST00000521620.5:n.1616G>A | ||
NM_000553.4:c.2983G>A , LRG_524t1:c.2983G>A | NP_000544.2:p.Ala995Thr | |
XM_011544639.1:c.2902G>A | XP_011542941.1:p.Ala968Thr | |
XM_011544640.1:c.1384G>A | XP_011542942.1:p.Ala462Thr | |
XR_949470.1:n.3256G>A | ||
XR_949471.1:n.3256G>A | ||
XR_949472.1:n.3256G>A | ||
NM_000553.5:c.2983G>A | NP_000544.2:p.Ala995Thr | |
XM_011544639.3:c.2902G>A | XP_011542941.1:p.Ala968Thr | |
XM_024447265.1:c.2773G>A | XP_024303033.1:p.Ala925Thr | |
XR_949470.3:n.3284G>A | ||
XR_949471.3:n.3284G>A | ||
XR_949472.3:n.3284G>A | ||
NM_000553.6:c.2983G>A MANE Select | NP_000544.2:p.Ala995Thr |