HGVS | Genome Assembly |
---|---|
NC_000002.12:g.227164775C>T , CM000664.2:g.227164775C>T | GRCh38 |
NC_000002.11:g.228029491C>T , CM000664.1:g.228029491C>T | GRCh37 |
NC_000002.10:g.227737735C>T | NCBI36 |
NG_011591.1:g.5211C>T , LRG_230:g.5211C>T | |
NG_011592.1:g.4785G>A , LRG_231:g.4785G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396578.8:c.49C>T MANE Select | ENSP00000379823.3:p.Leu17= | |
ENST00000396578.7:c.49C>T | ENSP00000379823.3:p.Leu17= | |
NM_000091.4:c.49C>T , LRG_230t1:c.49C>T | NP_000082.2:p.Leu17= | |
XM_005246276.2:c.49C>T | XP_005246333.1:p.Leu17= | |
XM_005246277.2:c.49C>T | XP_005246334.1:p.Leu17= | |
XM_005246280.2:c.49C>T | XP_005246337.1:p.Leu17= | |
XM_006712245.2:c.49C>T | XP_006712308.1:p.Leu17= | |
XM_011510555.1:c.49C>T | XP_011508857.1:p.Leu17= | |
XR_241280.2:n.187C>T | ||
XM_005246277.3:c.49C>T | XP_005246334.1:p.Leu17= | |
XM_005246280.3:c.49C>T | XP_005246337.1:p.Leu17= | |
XM_006712245.3:c.49C>T | XP_006712308.1:p.Leu17= | |
XM_017003295.1:c.49C>T | XP_016858784.1:p.Leu17= | |
XR_001738601.1:n.187C>T | ||
XR_241280.3:n.187C>T | ||
NM_000091.5:c.49C>T MANE Select | NP_000082.2:p.Leu17= |