HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31064406T>A , CM000670.2:g.31064406T>A | GRCh38 |
NC_000008.10:g.30921922T>A , CM000670.1:g.30921922T>A | GRCh37 |
NC_000008.9:g.31041464T>A | NCBI36 |
NG_008870.1:g.36145T>A , LRG_524:g.36145T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.327T>A MANE Select | ENSP00000298139.5:p.Cys109Ter | |
ENST00000650667.1:c.210-509T>A | ENSP00000498593.1:n.210-509T>A | |
ENST00000298139.5:c.327T>A | ENSP00000298139.5:p.Cys109Ter | |
NM_000553.4:c.327T>A , LRG_524t1:c.327T>A | NP_000544.2:p.Cys109Ter | |
XM_011544639.1:c.327T>A | XP_011542941.1:p.Cys109Ter | |
XR_949470.1:n.600T>A | ||
XR_949471.1:n.600T>A | ||
XR_949472.1:n.600T>A | ||
NM_000553.5:c.327T>A | NP_000544.2:p.Cys109Ter | |
XM_011544639.3:c.327T>A | XP_011542941.1:p.Cys109Ter | |
XM_024447265.1:c.117T>A | XP_024303033.1:p.Cys39Ter | |
XR_949470.3:n.628T>A | ||
XR_949471.3:n.628T>A | ||
XR_949472.3:n.628T>A | ||
NM_000553.6:c.327T>A MANE Select | NP_000544.2:p.Cys109Ter |