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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.61456588C= , CM000679.2:g.61456588C=
GRCh38
NC_000017.10:g.59533949C= , CM000679.1:g.59533949C=
GRCh37
NC_000017.9:g.56888731C=
NCBI36
NG_008080.1:g.5143C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642491.1:c.98C=
ENSP00000495714.1:p.Ala33=
ENST00000644296.1:c.98C=
MANE Select
ENSP00000495986.1:p.Ala33=
ENST00000240335.1:c.98C=
ENSP00000240335.1:p.Ala33=
ENST00000393853.8:c.98C=
ENSP00000377435.3:p.Ala33=
ENST00000589003.5:c.-125-36C=
ENSP00000467588.1:n.-125-36C=
NM_018488.2:c.98C=
NP_060958.2:p.Ala33=
XM_005257835.3:c.98C=
XP_005257892.2:p.Ala33=
XM_005257837.2:c.98C=
XP_005257894.1:p.Ala33=
XM_011525490.1:c.287C=
XP_011523792.1:p.Ala96=
XM_011525491.1:c.287C=
XP_011523793.1:p.Ala96=
XM_011525492.1:c.98C=
XP_011523794.1:p.Ala33=
XM_011525493.1:c.98C=
XP_011523795.1:p.Ala33=
XM_011525494.1:c.98C=
XP_011523796.1:p.Ala33=
XM_011525495.1:c.287C=
XP_011523797.1:p.Ala96=
NM_001321120.2:c.98C=
MANE Select
NP_001308049.1:p.Ala33=
NM_018488.3:c.98C=
NP_060958.2:p.Ala33=
XM_011525490.2:c.287C=
XP_011523792.1:p.Ala96=
XM_011525491.2:c.287C=
XP_011523793.1:p.Ala96=
XM_011525495.2:c.287C=
XP_011523797.1:p.Ala96=