HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50489924C>A , CM000684.2:g.50489924C>A | GRCh38 |
NC_000022.10:g.50928353C>A , CM000684.1:g.50928353C>A | GRCh37 |
NC_000022.9:g.49275219C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216075.11:c.*68C>A MANE Select | ENSP00000216075.6:n.*68C>A | |
ENST00000216075.10:c.*68C>A | ENSP00000216075.6:n.*68C>A | |
ENST00000395732.7:c.*99C>A | ENSP00000379081.3:n.*99C>A | |
ENST00000395733.7:c.*99C>A | ENSP00000379082.3:n.*99C>A | |
ENST00000451761.1:c.866C>A | ENSP00000409894.1:n.866C>A | |
NM_017584.5:c.*68C>A | NP_060054.4:n.*68C>A | |
XM_005261925.3:c.*68C>A | XP_005261982.1:n.*68C>A | |
XR_244455.2:n.3422C>A | ||
XM_005261925.4:c.*68C>A | XP_005261982.1:n.*68C>A | |
NM_017584.6:c.*68C>A MANE Select | NP_060054.4:n.*68C>A |