HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31167074G>A , CM000670.2:g.31167074G>A | GRCh38 |
NC_000008.10:g.31024590G>A , CM000670.1:g.31024590G>A | GRCh37 |
NC_000008.9:g.31144132G>A | NCBI36 |
NG_008870.1:g.138813G>A , LRG_524:g.138813G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.4035G>A MANE Select | ENSP00000298139.5:p.Thr1345= | |
ENST00000650667.1:c.*3649G>A | ENSP00000498593.1:n.*3649G>A | |
ENST00000651946.1:n.259G>A | ||
ENST00000298139.5:c.4035G>A | ENSP00000298139.5:p.Thr1345= | |
ENST00000521620.5:n.2668G>A | ||
NM_000553.4:c.4035G>A , LRG_524t1:c.4035G>A | NP_000544.2:p.Thr1345= | |
XM_011544639.1:c.3954G>A | XP_011542941.1:p.Thr1318= | |
XM_011544640.1:c.2436G>A | XP_011542942.1:p.Thr812= | |
XR_949470.1:n.4399G>A | ||
XR_949471.1:n.4762G>A | ||
XR_949472.1:n.4671G>A | ||
XR_949643.1:n.380+4C>T | ||
XR_949644.1:n.380+4C>T | ||
XR_949645.1:n.380+4C>T | ||
XR_949646.1:n.380+4C>T | ||
XR_949647.1:n.993+4C>T | ||
XR_949648.1:n.895+4C>T | ||
NM_000553.5:c.4035G>A | NP_000544.2:p.Thr1345= | |
XM_011544639.3:c.3954G>A | XP_011542941.1:p.Thr1318= | |
XM_024447265.1:c.3825G>A | XP_024303033.1:p.Thr1275= | |
XR_949470.3:n.4427G>A | ||
XR_949471.3:n.4790G>A | ||
XR_949472.3:n.4699G>A | ||
NM_000553.6:c.4035G>A MANE Select | NP_000544.2:p.Thr1345= |