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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.80202475A= , CM000666.2:g.80202475A=
GRCh38
NC_000004.11:g.81123629A= , CM000666.1:g.81123629A=
GRCh37
NC_000004.10:g.81342653A=
NCBI36
NG_046725.1:g.22206A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000415738.3:c.1013A=
MANE Select
ENSP00000406998.2:p.Glu338=
ENST00000339711.8:c.1013A=
ENSP00000339764.4:p.Glu338=
ENST00000415738.2:c.1013A=
ENSP00000406998.2:p.Glu338=
ENST00000504452.5:c.1013A=
ENSP00000423985.1:p.Glu338=
ENST00000515013.5:c.1013A=
ENSP00000425149.1:p.Glu338=
NM_001099403.1:c.1013A=
NP_001092873.1:p.Glu338=
NM_020226.3:c.1013A=
NP_064611.3:p.Glu338=
XM_005263144.2:c.1016A=
XP_005263201.1:p.Glu339=
XM_005263145.2:c.1016A=
XP_005263202.1:p.Glu339=
XM_005263146.3:c.1013A=
XP_005263203.1:p.Glu338=
XM_011532133.1:c.1856A=
XP_011530435.1:p.Glu619=
XM_011532134.1:c.1853A=
XP_011530436.1:p.Glu618=
XM_011532135.1:c.1715A=
XP_011530437.1:p.Glu572=
XM_011532136.1:c.1568A=
XP_011530438.1:p.Glu523=
XM_011532137.1:c.1568A=
XP_011530439.1:p.Glu523=
XM_011532138.1:c.1568A=
XP_011530440.1:p.Glu523=
XM_011532139.1:c.1568A=
XP_011530441.1:p.Glu523=
XM_011532140.1:c.1568A=
XP_011530442.1:p.Glu523=
XM_011532141.1:c.1430A=
XP_011530443.1:p.Glu477=
XM_011532142.1:c.1409A=
XP_011530444.1:p.Glu470=
XM_005263146.4:c.1013A=
XP_005263203.1:p.Glu338=
XM_011532133.2:c.1856A=
XP_011530435.1:p.Glu619=
XM_011532135.2:c.1715A=
XP_011530437.1:p.Glu572=
XM_011532140.2:c.1568A=
XP_011530442.1:p.Glu523=
XM_011532141.3:c.1430A=
XP_011530443.1:p.Glu477=
XM_017008468.1:c.1565A=
XP_016863957.1:p.Glu522=
XM_017008469.1:c.1652A=
XP_016863958.1:p.Glu551=
XM_017008470.1:c.1568A=
XP_016863959.1:p.Glu523=
NM_001099403.2:c.1013A=
MANE Select
NP_001092873.1:p.Glu338=
NM_020226.4:c.1013A=
NP_064611.3:p.Glu338=