Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617651A>T , CM000673.2:g.6617651A>T	GRCh38
NC_000011.9:g.6638882A>T , CM000673.1:g.6638882A>T	GRCh37
NC_000011.8:g.6595458A>T	NCBI36
NG_008653.1:g.6811T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.241T>A	ENSP00000507321.1:p.Phe81Ile
ENST00000299427.12:c.355T>A MANE Select	ENSP00000299427.6:p.Phe119Ile
ENST00000428886.7:n.443T>A
ENST00000436873.7:c.159T>A
ENST00000524788.2:n.1367T>A
ENST00000524903.2:n.1483T>A
ENST00000528571.6:c.*95T>A	ENSP00000434647.1:n.*95T>A
ENST00000530040.2:n.384T>A
ENST00000533371.6:c.-375T>A	ENSP00000437066.1:n.-375T>A
ENST00000534644.6:n.356T>A
ENST00000642892.1:c.-322T>A	ENSP00000494165.1:n.-322T>A
ENST00000643439.1:c.*95T>A	ENSP00000495849.1:n.*95T>A
ENST00000643479.1:n.384T>A
ENST00000643516.1:c.242T>A
ENST00000644151.1:n.1647T>A
ENST00000644218.1:c.355T>A	ENSP00000493574.1:p.Phe119Ile
ENST00000644683.1:c.355T>A	ENSP00000494085.1:p.Phe119Ile
ENST00000644810.1:c.230-498T>A	ENSP00000495895.1:n.230-498T>A
ENST00000644831.1:n.384T>A
ENST00000644933.1:c.-375T>A	ENSP00000496133.1:n.-375T>A
ENST00000645020.1:n.1383T>A
ENST00000645285.1:c.-375T>A	ENSP00000495058.1:n.-375T>A
ENST00000645331.1:n.377T>A
ENST00000645620.1:c.-317T>A	ENSP00000493657.1:n.-317T>A
ENST00000646777.1:n.384T>A
ENST00000647016.1:n.688T>A
ENST00000647152.1:c.-375T>A	ENSP00000495893.1:n.-375T>A
ENST00000647209.1:c.*224T>A	ENSP00000495558.1:n.*224T>A
ENST00000647346.1:n.1375T>A
ENST00000299427.10:c.355T>A	ENSP00000299427.6:p.Phe119Ile
ENST00000428886.6:n.377T>A
ENST00000436873.6:c.355T>A	ENSP00000398136.2:p.Phe119Ile
ENST00000528571.5:c.*95T>A	ENSP00000434647.1:n.*95T>A
ENST00000530040.1:n.467T>A
ENST00000533371.5:c.-375T>A	ENSP00000437066.1:n.-375T>A
ENST00000534644.5:n.340T>A
ENST00000611494.4:c.355T>A	ENSP00000484546.1:p.Phe119Ile
NM_000391.3:c.355T>A	NP_000382.3:p.Phe119Ile
NM_000391.4:c.355T>A MANE Select	NP_000382.3:p.Phe119Ile

Linked Data

Genomic Alleles

Transcript Alleles