Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132621689T>C , CM000674.2:g.132621689T>C	GRCh38
NC_000012.11:g.133198275T>C , CM000674.1:g.133198275T>C	GRCh37
NC_000012.10:g.131708348T>C	NCBI36
NG_033909.1:g.7910T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643471.2:c.1133T>C MANE Select	ENSP00000494644.1:p.Phe378Ser
ENST00000343948.8:c.1211T>C	ENSP00000343339.4:p.Phe404Ser
ENST00000348800.9:c.1133T>C	ENSP00000345095.5:p.Phe378Ser
ENST00000350048.9:c.1061T>C	ENSP00000343904.5:p.Phe354Ser
ENST00000351222.8:c.857T>C	ENSP00000344502.4:p.Phe286Ser
ENST00000352418.8:c.917T>C	ENSP00000341419.4:p.Phe306Ser
ENST00000389110.7:c.1133T>C	ENSP00000373762.3:p.Phe378Ser
ENST00000449132.6:c.1031T>C	ENSP00000405531.2:p.Phe344Ser
ENST00000542301.2:c.1230T>C	ENSP00000444477.2:n.1230T>C
NM_001282164.1:c.1031T>C	NP_001269093.1:p.Phe344Ser
NM_001282165.1:c.*180T>C	NP_001269094.1:n.*180T>C
NM_012226.4:c.917T>C	NP_036358.2:p.Phe306Ser
NM_016318.3:c.1061T>C	NP_057402.1:p.Phe354Ser
NM_170682.3:c.1133T>C	NP_733782.1:p.Phe378Ser
NM_170683.3:c.1211T>C	NP_733783.1:p.Phe404Ser
NM_174872.2:c.857T>C	NP_777361.1:p.Phe286Ser
NM_174873.2:c.1133T>C	NP_777362.1:p.Phe378Ser
XM_005266154.2:c.1256T>C	XP_005266211.1:p.Phe419Ser
XM_005266155.3:c.1211T>C	XP_005266212.1:p.Phe404Ser
XM_005266156.3:c.1211T>C	XP_005266213.1:p.Phe404Ser
XM_011534786.1:c.1139T>C	XP_011533088.1:p.Phe380Ser
XM_005266154.4:c.1256T>C	XP_005266211.1:p.Phe419Ser
XM_005266155.5:c.1211T>C	XP_005266212.1:p.Phe404Ser
XM_005266156.5:c.1211T>C	XP_005266213.1:p.Phe404Ser
XM_011534786.3:c.1139T>C	XP_011533088.1:p.Phe380Ser
XM_017019035.2:c.1133T>C	XP_016874524.1:p.Phe378Ser
NM_001282164.2:c.1031T>C	NP_001269093.1:p.Phe344Ser
NM_001282165.2:c.*180T>C	NP_001269094.1:n.*180T>C
NM_012226.5:c.917T>C	NP_036358.2:p.Phe306Ser
NM_016318.4:c.1061T>C	NP_057402.1:p.Phe354Ser
NM_170682.4:c.1133T>C MANE Select	NP_733782.1:p.Phe378Ser
NM_170683.4:c.1211T>C	NP_733783.1:p.Phe404Ser
NM_174872.3:c.857T>C	NP_777361.1:p.Phe286Ser
NM_174873.3:c.1133T>C	NP_777362.1:p.Phe378Ser