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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909670C>T , CM000663.2:g.173909670C>T
GRCh38
NC_000001.10:g.173878808C>T , CM000663.1:g.173878808C>T
GRCh37
NC_000001.9:g.172145431C>T
NCBI36
NG_012462.1:g.12709G>A , LRG_577:g.12709G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1035G>A
MANE Select
ENSP00000356671.3:p.Glu345=
ENST00000367698.3:c.1035G>A
ENSP00000356671.3:p.Glu345=
ENST00000617423.4:c.560-2177G>A
ENSP00000478688.1:n.560-2177G>A
NM_000488.3:c.1035G>A , LRG_577t1:c.1035G>A
NP_000479.1:p.Glu345=
XM_005245198.2:c.891G>A
XP_005245255.1:p.Glu297=
NM_001365052.1:c.891G>A
NP_001351981.1:p.Glu297=
NM_000488.4:c.1035G>A
MANE Select
NP_000479.1:p.Glu345=
NM_001365052.2:c.891G>A
NP_001351981.1:p.Glu297=
NM_001386302.1:c.1158G>A
NP_001373231.1:p.Glu386=
NM_001386303.1:c.1116G>A
NP_001373232.1:p.Glu372=
NM_001386304.1:c.1014G>A
NP_001373233.1:p.Glu338=
NM_001386305.1:c.978G>A
NP_001373234.1:p.Glu326=
NM_001386306.1:c.819G>A
NP_001373235.1:p.Glu273=