Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132621323T>C , CM000674.2:g.132621323T>C	GRCh38
NC_000012.11:g.133197909T>C , CM000674.1:g.133197909T>C	GRCh37
NC_000012.10:g.131707982T>C	NCBI36
NG_033909.1:g.7544T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643471.2:c.974T>C MANE Select	ENSP00000494644.1:p.Ile325Thr
ENST00000343948.8:c.974T>C	ENSP00000343339.4:p.Ile325Thr
ENST00000348800.9:c.974T>C	ENSP00000345095.5:p.Ile325Thr
ENST00000350048.9:c.902T>C	ENSP00000343904.5:p.Ile301Thr
ENST00000351222.8:c.698T>C	ENSP00000344502.4:p.Ile233Thr
ENST00000352418.8:c.758T>C	ENSP00000341419.4:p.Ile253Thr
ENST00000389110.7:c.974T>C	ENSP00000373762.3:p.Ile325Thr
ENST00000449132.6:c.872T>C	ENSP00000405531.2:p.Ile291Thr
ENST00000542301.2:c.974T>C	ENSP00000444477.2:p.Ile325Thr
NM_001282164.1:c.872T>C	NP_001269093.1:p.Ile291Thr
NM_001282165.1:c.974T>C	NP_001269094.1:p.Ile325Thr
NM_012226.4:c.758T>C	NP_036358.2:p.Ile253Thr
NM_016318.3:c.902T>C	NP_057402.1:p.Ile301Thr
NM_170682.3:c.974T>C	NP_733782.1:p.Ile325Thr
NM_170683.3:c.974T>C	NP_733783.1:p.Ile325Thr
NM_174872.2:c.698T>C	NP_777361.1:p.Ile233Thr
NM_174873.2:c.974T>C	NP_777362.1:p.Ile325Thr
XM_005266154.2:c.1097T>C	XP_005266211.1:p.Ile366Thr
XM_005266155.3:c.974T>C	XP_005266212.1:p.Ile325Thr
XM_005266156.3:c.974T>C	XP_005266213.1:p.Ile325Thr
XM_011534786.1:c.902T>C	XP_011533088.1:p.Ile301Thr
XM_005266154.4:c.1097T>C	XP_005266211.1:p.Ile366Thr
XM_005266155.5:c.974T>C	XP_005266212.1:p.Ile325Thr
XM_005266156.5:c.974T>C	XP_005266213.1:p.Ile325Thr
XM_011534786.3:c.902T>C	XP_011533088.1:p.Ile301Thr
XM_017019035.2:c.974T>C	XP_016874524.1:p.Ile325Thr
NM_001282164.2:c.872T>C	NP_001269093.1:p.Ile291Thr
NM_001282165.2:c.974T>C	NP_001269094.1:p.Ile325Thr
NM_012226.5:c.758T>C	NP_036358.2:p.Ile253Thr
NM_016318.4:c.902T>C	NP_057402.1:p.Ile301Thr
NM_170682.4:c.974T>C MANE Select	NP_733782.1:p.Ile325Thr
NM_170683.4:c.974T>C	NP_733783.1:p.Ile325Thr
NM_174872.3:c.698T>C	NP_777361.1:p.Ile233Thr
NM_174873.3:c.974T>C	NP_777362.1:p.Ile325Thr