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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.745367T>C , CM000679.2:g.745367T>C
GRCh38
NC_000017.10:g.648607T>C , CM000679.1:g.648607T>C
GRCh37
NC_000017.9:g.595357T>C
NCBI36
NG_046938.1:g.12506A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000319004.6:c.2676A>G
MANE Select
ENSP00000321706.5:p.Glu892=
ENST00000319004.5:c.2676A>G
ENSP00000321706.5:p.Glu892=
ENST00000576778.1:c.2643A>G
ENSP00000459565.1:p.Glu881=
NM_015721.2:c.2676A>G
NP_056536.2:p.Glu892=
XM_005256667.3:c.2688A>G
XP_005256724.1:p.Glu896=
XM_005256668.3:c.2688A>G
XP_005256725.1:p.Glu896=
XM_005256670.3:c.2643A>G
XP_005256727.1:p.Glu881=
XM_011523910.1:c.2688A>G
XP_011522212.1:p.Glu896=
XM_011523911.1:c.2688A>G
XP_011522213.1:p.Glu896=
XM_011523912.1:c.2643A>G
XP_011522214.1:p.Glu881=
XM_011523913.1:c.2643A>G
XP_011522215.1:p.Glu881=
XM_005256667.4:c.2688A>G
XP_005256724.1:p.Glu896=
XM_005256670.5:c.2643A>G
XP_005256727.1:p.Glu881=
XM_011523910.2:c.2688A>G
XP_011522212.1:p.Glu896=
XM_011523911.2:c.2688A>G
XP_011522213.1:p.Glu896=
XM_011523912.2:c.2643A>G
XP_011522214.1:p.Glu881=
XM_011523913.2:c.2643A>G
XP_011522215.1:p.Glu881=
XM_017024709.1:c.2688A>G
XP_016880198.1:p.Glu896=
NM_015721.3:c.2676A>G
MANE Select
NP_056536.2:p.Glu892=