Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23069589T>C , CM000676.2:g.23069589T>C	GRCh38
NC_000014.8:g.23538798T>C , CM000676.1:g.23538798T>C	GRCh37
NC_000014.7:g.22608638T>C	NCBI36
NG_030461.1:g.31026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605057.6:c.2152A>G MANE Select	ENSP00000474349.1:p.Thr718Ala
ENST00000262710.5:c.2326A>G	ENSP00000262710.1:p.Thr776Ala
ENST00000338631.10:c.145A>G	ENSP00000345541.6:p.Thr49Ala
ENST00000357481.6:c.52A>G	ENSP00000350073.2:p.Thr18Ala
ENST00000397341.7:c.52A>G	ENSP00000380502.3:p.Thr18Ala
ENST00000457657.5:c.2206A>G	ENSP00000405677.1:p.Thr736Ala
ENST00000553501.1:n.160A>G
ENST00000553721.5:n.158A>G
ENST00000554979.1:n.106A>G
ENST00000555053.5:c.2326A>G	ENSP00000451328.1:p.Thr776Ala
ENST00000555352.2:c.275A>G	ENSP00000481955.1:n.275A>G
ENST00000555566.1:c.52A>G	ENSP00000451410.1:p.Thr18Ala
ENST00000557432.2:n.455A>G
ENST00000557515.5:c.52A>G	ENSP00000451138.1:p.Thr18Ala
ENST00000605057.5:c.2152A>G	ENSP00000474349.1:p.Thr718Ala
NM_001164814.1:c.2326A>G	NP_001158286.1:p.Thr776Ala
NM_001164815.1:c.2206A>G	NP_001158287.1:p.Thr736Ala
NM_001164816.1:c.145A>G	NP_001158288.1:p.Thr49Ala
NM_001164817.1:c.52A>G	NP_001158289.1:p.Thr18Ala
NM_014977.3:c.2326A>G	NP_055792.1:p.Thr776Ala
XM_005267415.2:c.2326A>G	XP_005267472.1:p.Thr776Ala
XM_005267416.2:c.2326A>G	XP_005267473.1:p.Thr776Ala
XM_005267418.1:c.52A>G	XP_005267475.1:p.Thr18Ala
XM_006720081.2:c.2326A>G	XP_006720144.1:p.Thr776Ala
XM_011536569.1:c.2038A>G	XP_011534871.1:p.Thr680Ala
XM_011536570.1:c.2326A>G	XP_011534872.1:p.Thr776Ala
XR_429297.2:n.2459A>G
XM_005267415.4:c.2326A>G	XP_005267472.1:p.Thr776Ala
XM_005267416.4:c.2326A>G	XP_005267473.1:p.Thr776Ala
XM_006720081.4:c.2326A>G	XP_006720144.1:p.Thr776Ala
XM_011536570.3:c.2326A>G	XP_011534872.1:p.Thr776Ala
XM_024449512.1:c.2206A>G	XP_024305280.1:p.Thr736Ala
XR_429297.4:n.2453A>G
NM_001164816.2:c.145A>G	NP_001158288.1:p.Thr49Ala
NM_001164817.2:c.52A>G	NP_001158289.1:p.Thr18Ala
NM_001386863.1:c.2152A>G MANE Select	NP_001373792.1:p.Thr718Ala