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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186285692A>G , CM000666.2:g.186285692A>G
GRCh38
NC_000004.11:g.187206846A>G , CM000666.1:g.187206846A>G
GRCh37
NC_000004.10:g.187443840A>G
NCBI36
NG_008051.1:g.24729A>G , LRG_583:g.24729A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1359A>G
MANE Select
ENSP00000384957.2:p.Glu453=
ENST00000264691.4:c.55A>G
ENST00000264692.8:c.1197A>G
ENSP00000264692.5:p.Glu399=
ENST00000403665.6:c.1359A>G
ENSP00000384957.2:p.Glu453=
NM_000128.3:c.1359A>G , LRG_583t1:c.1359A>G
NP_000119.1:p.Glu453=
XM_005262821.2:c.1362A>G
XP_005262878.1:p.Glu454=
XM_005262822.2:c.1362A>G
XP_005262879.1:p.Glu454=
XM_005262823.2:c.1092A>G
XP_005262880.1:p.Glu364=
XM_005262824.1:c.1362A>G
XP_005262881.1:p.Glu454=
XM_006714137.1:c.1314A>G
XP_006714200.1:p.Glu438=
XR_938706.1:n.1767A>G
XR_938707.1:n.1767A>G
XM_005262821.4:c.1362A>G
XP_005262878.1:p.Glu454=
XM_005262822.4:c.1362A>G
XP_005262879.1:p.Glu454=
XM_005262823.4:c.1092A>G
XP_005262880.1:p.Glu364=
XM_006714137.3:c.1314A>G
XP_006714200.1:p.Glu438=
XR_001741172.2:n.1833A>G
NM_000128.4:c.1359A>G
MANE Select
NP_000119.1:p.Glu453=