HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50489819T= , CM000684.2:g.50489819T= | GRCh38 |
NC_000022.10:g.50928248T= , CM000684.1:g.50928248T= | GRCh37 |
NC_000022.9:g.49275114T= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216075.11:c.821T= MANE Select | ENSP00000216075.6:p.Leu274= | |
ENST00000216075.10:c.821T= | ENSP00000216075.6:p.Leu274= | |
ENST00000395732.7:c.807T= | ENSP00000379081.3:p.Ala269= | |
ENST00000395733.7:c.690T= | ENSP00000379082.3:p.Ala230= | |
ENST00000451761.1:c.761T= | ENSP00000409894.1:p.Leu254= | |
NM_017584.5:c.821T= | NP_060054.4:p.Leu274= | |
XM_005261925.3:c.683T= | XP_005261982.1:p.Leu228= | |
XR_244455.2:n.3317T= | ||
XM_005261925.4:c.683T= | XP_005261982.1:p.Leu228= | |
NM_017584.6:c.821T= MANE Select | NP_060054.4:p.Leu274= |