HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50489818C= , CM000684.2:g.50489818C= | GRCh38 |
NC_000022.10:g.50928247C= , CM000684.1:g.50928247C= | GRCh37 |
NC_000022.9:g.49275113C= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216075.11:c.820C= MANE Select | ENSP00000216075.6:p.Leu274= | |
ENST00000216075.10:c.820C= | ENSP00000216075.6:p.Leu274= | |
ENST00000395732.7:c.806C= | ENSP00000379081.3:p.Ala269= | |
ENST00000395733.7:c.689C= | ENSP00000379082.3:p.Ala230= | |
ENST00000451761.1:c.760C= | ENSP00000409894.1:p.Leu254= | |
NM_017584.5:c.820C= | NP_060054.4:p.Leu274= | |
XM_005261925.3:c.682C= | XP_005261982.1:p.Leu228= | |
XR_244455.2:n.3316C= | ||
XM_005261925.4:c.682C= | XP_005261982.1:p.Leu228= | |
NM_017584.6:c.820C= MANE Select | NP_060054.4:p.Leu274= |