HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3669598G>A , CM000682.2:g.3669598G>A | GRCh38 |
NC_000020.10:g.3650245G>A , CM000682.1:g.3650245G>A | GRCh37 |
NC_000020.9:g.3598245G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356518.7:c.2280C>T MANE Select | ENSP00000348912.3:p.Gly760= | |
ENST00000350009.6:c.2202C>T | ENSP00000322550.5:p.Gly734= | |
ENST00000356518.6:c.2280C>T | ENSP00000348912.2:p.Gly760= | |
ENST00000379861.8:c.2280C>T | ENSP00000369190.4:p.Gly760= | |
ENST00000466620.5:n.1841C>T | ||
ENST00000483362.1:n.1028C>T | ||
ENST00000617732.1:c.*967C>T | ENSP00000483343.1:n.*967C>T | |
ENST00000619289.4:c.1920C>T | ENSP00000484600.1:p.Gly640= | |
NM_001282447.1:c.2280C>T | NP_001269376.1:p.Gly760= | |
NM_025220.3:c.2280C>T | NP_079496.1:p.Gly760= | |
NM_153202.2:c.2202C>T | NP_694882.1:p.Gly734= | |
XM_005260843.1:c.2319C>T | XP_005260900.1:p.Gly773= | |
XM_006723639.1:c.2319C>T | XP_006723702.1:p.Gly773= | |
XM_006723640.1:c.2310C>T | XP_006723703.1:p.Gly770= | |
XM_011529366.1:c.2316C>T | XP_011527668.1:p.Gly772= | |
XM_011529367.1:c.2277C>T | XP_011527669.1:p.Gly759= | |
XM_011529368.1:c.2241C>T | XP_011527670.1:p.Gly747= | |
XM_011529373.1:c.1317C>T | XP_011527675.1:p.Gly439= | |
XR_937151.1:n.2384-228C>T | ||
XR_937152.1:n.2384-228C>T | ||
XR_937153.1:n.2304C>T | ||
XR_937154.1:n.2304C>T | ||
XR_937155.1:n.2225C>T | ||
XR_937157.1:n.2227C>T | ||
NM_001282447.2:c.2280C>T | NP_001269376.1:p.Gly760= | |
NM_025220.4:c.2280C>T | NP_079496.1:p.Gly760= | |
NM_153202.3:c.2202C>T | NP_694882.1:p.Gly734= | |
XM_011529373.2:c.1317C>T | XP_011527675.1:p.Gly439= | |
XR_001754405.1:n.2391C>T | ||
XR_002958534.1:n.2500C>T | ||
NM_001282447.3:c.2280C>T | NP_001269376.1:p.Gly760= | |
NM_025220.5:c.2280C>T MANE Select | NP_079496.1:p.Gly760= | |
NM_153202.4:c.2202C>T | NP_694882.1:p.Gly734= |