Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28534333A>G , CM000679.2:g.28534333A>G	GRCh38
NC_000017.10:g.26861351A>G , CM000679.1:g.26861351A>G	GRCh37
NC_000017.9:g.23885478A>G	NCBI36
NG_007260.1:g.15393A>G , LRG_61:g.15393A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369369.1:c.930A>G MANE Select	NP_001356298.1:p.Thr310=
ENST00000579795.6:c.930A>G MANE Select	ENSP00000464645.1:p.Thr310=
NM_003593.2:c.930A>G , LRG_61t1:c.930A>G	NP_003584.2:p.Thr310=
NM_003593.3:c.930A>G	NP_003584.2:p.Thr310=
ENST00000226247.2:c.930A>G	ENSP00000226247.2:p.Thr310=
ENST00000481916.6:c.*1195+69718T>C	ENSP00000436369.2:n.*1195+69718T>C
ENST00000577936.2:c.930A>G	ENSP00000462159.2:p.Thr310=
ENST00000579795.5:c.930A>G	ENSP00000464645.1:p.Thr310=
XM_005258046.3:c.930A>G	XP_005258103.1:p.Thr310=
XM_011525354.1:c.987A>G	XP_011523656.1:p.Thr329=
XM_011525355.1:c.984A>G	XP_011523657.1:p.Thr328=
XM_011525356.1:c.984A>G	XP_011523658.1:p.Thr328=
XM_011525357.1:c.966A>G	XP_011523659.1:p.Thr322=
XM_011525358.1:c.933A>G	XP_011523660.1:p.Thr311=
XM_011525359.1:c.933A>G	XP_011523661.1:p.Thr311=
XM_011525360.1:c.933A>G	XP_011523662.1:p.Thr311=
XM_011525361.1:c.930A>G	XP_011523663.1:p.Thr310=
XM_011525362.1:c.930A>G	XP_011523664.1:p.Thr310=
XM_011525363.1:c.987A>G	XP_011523665.1:p.Thr329=
XM_011525364.1:c.465A>G	XP_011523666.1:p.Thr155=
XM_011525365.1:c.987A>G	XP_011523667.1:p.Thr329=
XM_011525366.1:c.387A>G	XP_011523668.1:p.Thr129=
XM_011525367.1:c.372A>G	XP_011523669.1:p.Thr124=
XM_011525368.1:c.294A>G	XP_011523670.1:p.Thr98=
XM_011525368.2:c.294A>G	XP_011523670.1:p.Thr98=
XM_011525369.1:c.294A>G	XP_011523671.1:p.Thr98=
XM_011525369.2:c.294A>G	XP_011523671.1:p.Thr98=
XM_011525370.1:c.294A>G	XP_011523672.1:p.Thr98=
XM_011525370.2:c.294A>G	XP_011523672.1:p.Thr98=
XM_017025228.1:c.930A>G	XP_016880717.1:p.Thr310=
XM_017025229.1:c.933A>G	XP_016880718.1:p.Thr311=
XM_017025230.1:c.933A>G	XP_016880719.1:p.Thr311=
XM_017025231.1:c.933A>G	XP_016880720.1:p.Thr311=