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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113932394G>A , CM000673.2:g.113932394G>A
GRCh38
NC_000011.9:g.113803116G>A , CM000673.1:g.113803116G>A
GRCh37
NC_000011.8:g.113308326G>A
NCBI36
NG_011483.1:g.32528G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260191.8:c.474G>A
MANE Select
ENSP00000260191.2:p.Glu158=
ENST00000260191.7:c.474G>A
ENSP00000260191.2:p.Glu158=
ENST00000260191.6:c.474G>A
ENSP00000260191.2:p.Glu158=
ENST00000537778.5:c.441G>A
ENSP00000443118.1:p.Glu147=
ENST00000543092.1:c.260G>A
NM_006028.4:c.474G>A
NP_006019.1:p.Glu158=
XM_011543063.1:c.441G>A
XP_011541365.1:p.Glu147=
XM_011543064.1:c.273G>A
XP_011541366.1:p.Glu91=
XM_011543065.1:c.267G>A
XP_011541367.1:p.Glu89=
XM_011543066.1:c.441G>A
XP_011541368.1:p.Glu147=
NM_001363563.1:c.441G>A
NP_001350492.1:p.Glu147=
XM_017018552.2:c.267G>A
XP_016874041.1:p.Glu89=
XM_024448767.1:c.180G>A
XP_024304535.1:p.Glu60=
XR_001748034.2:n.725G>A
NM_001363563.2:c.441G>A
NP_001350492.1:p.Glu147=
NM_006028.5:c.474G>A
MANE Select
NP_006019.1:p.Glu158=