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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.23165904A>G , CM000669.2:g.23165904A>G
GRCh38
NC_000007.13:g.23205523A>G , CM000669.1:g.23205523A>G
GRCh37
NC_000007.12:g.23172048A>G
NCBI36
NG_016983.1:g.65171A>G
NG_016983.2:g.65171A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000339077.10:c.1143A>G
MANE Select
ENSP00000343273.4:p.Glu381=
ENST00000339077.9:c.1143A>G
ENSP00000343273.4:p.Glu381=
ENST00000409689.5:c.999A>G
ENSP00000386263.1:p.Glu333=
ENST00000469576.1:n.30A>G
ENST00000521082.5:c.*1151A>G
ENSP00000430351.1:n.*1151A>G
NM_001031710.2:c.1143A>G
NP_001026880.2:p.Glu381=
NM_018846.4:c.999A>G
NP_061334.4:p.Glu333=
NR_033328.1:n.1567A>G
XM_006715753.1:c.1182A>G
XP_006715816.1:p.Glu394=
XM_006715754.1:c.1116A>G
XP_006715817.1:p.Glu372=
XM_006715755.1:c.1116A>G
XP_006715818.1:p.Glu372=
XM_006715756.1:c.1038A>G
XP_006715819.1:p.Glu346=
XM_006715753.3:c.1182A>G
XP_006715816.1:p.Glu394=
XM_006715754.3:c.1116A>G
XP_006715817.1:p.Glu372=
XM_006715755.3:c.1116A>G
XP_006715818.1:p.Glu372=
XM_006715756.3:c.1038A>G
XP_006715819.1:p.Glu346=
XM_017012439.2:c.1077A>G
XP_016867928.1:p.Glu359=
NM_001031710.3:c.1143A>G
MANE Select
NP_001026880.2:p.Glu381=
NM_018846.5:c.999A>G
NP_061334.4:p.Glu333=
NR_033328.2:n.1516A>G