HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110812324C>G , CM000672.2:g.110812324C>G | GRCh38 |
NC_000010.10:g.112572082C>G , CM000672.1:g.112572082C>G | GRCh37 |
NC_000010.9:g.112562072C>G | NCBI36 |
NG_021177.1:g.172928C>G , LRG_382:g.172928C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369519.4:c.1927C>G MANE Select | ENSP00000358532.3:p.Leu643Val | |
ENST00000369519.3:c.1927C>G | ENSP00000358532.3:p.Leu643Val | |
NM_001134363.2:c.1927C>G | NP_001127835.2:p.Leu643Val | |
XM_011539697.1:c.1543C>G | XP_011537999.1:p.Leu515Val | |
XM_017016103.2:c.1762C>G | XP_016871592.1:p.Leu588Val | |
XM_017016104.2:c.1543C>G | XP_016871593.1:p.Leu515Val | |
NM_001134363.3:c.1927C>G MANE Select | NP_001127835.2:p.Leu643Val |