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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.67350235T>C , CM000679.2:g.67350235T>C
GRCh38
NC_000017.10:g.65346351T>C , CM000679.1:g.65346351T>C
GRCh37
NC_000017.9:g.62776813T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356126.8:c.399A>G
MANE Select
ENSP00000348442.3:p.Glu133=
ENST00000356126.7:c.399A>G
ENSP00000348442.3:p.Glu133=
ENST00000357146.4:c.339A>G
ENSP00000349667.4:p.Glu113=
ENST00000584008.5:c.*554A>G
ENSP00000462525.1:n.*554A>G
ENST00000584289.5:n.448A>G
NM_001316341.1:c.222A>G
NP_001303270.1:p.Glu74=
NM_002816.3:c.399A>G
NP_002807.1:p.Glu133=
NM_002816.4:c.399A>G
NP_002807.1:p.Glu133=
NM_174871.2:c.339A>G
NP_777360.1:p.Glu113=
NM_174871.3:c.339A>G
NP_777360.1:p.Glu113=
XM_011525048.1:c.222A>G
XP_011523350.1:p.Glu74=
XM_011525049.1:c.222A>G
XP_011523351.1:p.Glu74=
XM_011525050.1:c.399A>G
XP_011523352.1:p.Glu133=
XM_024450842.1:c.486A>G
XP_024306610.1:p.Glu162=
XM_024450843.1:c.222A>G
XP_024306611.1:p.Glu74=
XR_001752571.2:n.478A>G
NM_002816.5:c.399A>G
MANE Select
NP_002807.1:p.Glu133=
NM_001316341.2:c.222A>G
NP_001303270.1:p.Glu74=
NM_174871.4:c.339A>G
NP_777360.1:p.Glu113=