Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89553920G>A , CM000678.2:g.89553920G>A	GRCh38
NC_000016.9:g.89620328G>A , CM000678.1:g.89620328G>A	GRCh37
NC_000016.8:g.88147829G>A	NCBI36
NG_008082.1:g.50524G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268704.7:c.2042G>A	ENSP00000268704.3:p.Arg681Gln
ENST00000561702.6:n.2735G>A
ENST00000566682.2:c.1104G>A	ENSP00000461979.2:n.1104G>A
ENST00000569720.2:n.746G>A
ENST00000569820.6:c.2336G>A
ENST00000642226.1:n.2126G>A
ENST00000642334.1:c.3481G>A
ENST00000642814.1:n.1478G>A
ENST00000642984.1:n.1786G>A
ENST00000643105.1:c.2769G>A
ENST00000643350.1:n.1477G>A
ENST00000643409.1:n.2488G>A
ENST00000643496.1:n.1880G>A
ENST00000643649.1:c.1952G>A	ENSP00000494806.1:p.Arg651Gln
ENST00000643668.1:c.*2357G>A	ENSP00000494903.1:n.*2357G>A
ENST00000643724.1:c.*1111G>A	ENSP00000496335.1:n.*1111G>A
ENST00000643954.1:c.2962G>A
ENST00000644171.1:n.2823G>A
ENST00000644210.1:c.*635G>A	ENSP00000495675.1:n.*635G>A
ENST00000644225.1:n.2080G>A
ENST00000644281.1:n.2747G>A
ENST00000644464.1:n.716G>A
ENST00000644498.1:c.*1882G>A	ENSP00000496244.1:n.*1882G>A
ENST00000644671.1:c.1720G>A
ENST00000644751.1:c.1251G>A
ENST00000644781.1:c.2018G>A	ENSP00000495473.1:p.Arg673Gln
ENST00000644901.1:c.*2457G>A	ENSP00000493797.1:n.*2457G>A
ENST00000645042.1:c.*837G>A	ENSP00000493908.1:n.*837G>A
ENST00000645063.1:c.2063G>A	ENSP00000493590.1:p.Arg688Gln
ENST00000645354.1:c.2823G>A
ENST00000645392.1:n.2404G>A
ENST00000645742.1:n.697G>A
ENST00000645818.2:c.2063G>A MANE Select	ENSP00000495795.2:p.Arg688Gln
ENST00000645842.1:n.1908G>A
ENST00000645886.1:c.1568G>A
ENST00000645897.1:c.1601G>A	ENSP00000495293.1:p.Arg534Gln
ENST00000645952.1:n.1928G>A
ENST00000645977.1:n.3181G>A
ENST00000646005.1:n.1821G>A
ENST00000646263.1:c.*936G>A	ENSP00000494119.1:n.*936G>A
ENST00000646303.1:c.1931G>A	ENSP00000494160.1:p.Arg644Gln
ENST00000646399.1:c.2957G>A
ENST00000646445.1:c.921G>A
ENST00000646531.1:c.*686G>A	ENSP00000495185.1:n.*686G>A
ENST00000646589.1:c.*1191G>A	ENSP00000494739.1:n.*1191G>A
ENST00000646716.1:c.1115G>A	ENSP00000495593.1:p.Arg372Gln
ENST00000646826.1:c.*736G>A	ENSP00000495123.1:n.*736G>A
ENST00000646930.1:c.*1992G>A	ENSP00000495219.1:n.*1992G>A
ENST00000647032.1:c.1678G>A
ENST00000647079.1:c.1655G>A	ENSP00000495967.1:p.Arg552Gln
ENST00000647123.1:n.2020G>A
ENST00000647227.1:c.1701G>A
ENST00000647302.1:n.2713G>A
ENST00000647476.1:n.950G>A
ENST00000647491.1:n.1807G>A
ENST00000268704.6:c.2063G>A	ENSP00000268704.2:p.Arg688Gln
ENST00000561702.5:n.1048G>A
ENST00000561911.5:c.663G>A	ENSP00000457387.1:n.663G>A
ENST00000566682.1:c.199G>A
ENST00000569720.1:n.254G>A
ENST00000569820.5:c.1305G>A
ENST00000620811.4:c.*109G>A	ENSP00000478030.1:n.*109G>A
NM_003119.3:c.2063G>A	NP_003110.1:p.Arg688Gln
XM_006721264.2:c.2063G>A	XP_006721327.1:p.Arg688Gln
NM_001363850.1:c.2063G>A	NP_001350779.1:p.Arg688Gln
XM_006721264.4:c.2063G>A	XP_006721327.1:p.Arg688Gln
XR_001751971.2:n.2412G>A
XR_001751972.2:n.3699G>A
NM_003119.4:c.2063G>A MANE Select	NP_003110.1:p.Arg688Gln

Linked Data

Genomic Alleles

Transcript Alleles