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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909681C= , CM000663.2:g.173909681C=
GRCh38
NC_000001.10:g.173878819C= , CM000663.1:g.173878819C=
GRCh37
NC_000001.9:g.172145442C=
NCBI36
NG_012462.1:g.12698G= , LRG_577:g.12698G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1024G=
MANE Select
ENSP00000356671.3:p.Glu342=
ENST00000367698.3:c.1024G=
ENSP00000356671.3:p.Glu342=
ENST00000617423.4:c.559+2183G=
ENSP00000478688.1:n.559+2183G=
NM_000488.3:c.1024G= , LRG_577t1:c.1024G=
NP_000479.1:p.Glu342=
XM_005245198.2:c.880G=
XP_005245255.1:p.Glu294=
NM_001365052.1:c.880G=
NP_001351981.1:p.Glu294=
NM_000488.4:c.1024G=
MANE Select
NP_000479.1:p.Glu342=
NM_001365052.2:c.880G=
NP_001351981.1:p.Glu294=
NM_001386302.1:c.1147G=
NP_001373231.1:p.Glu383=
NM_001386303.1:c.1105G=
NP_001373232.1:p.Glu369=
NM_001386304.1:c.1003G=
NP_001373233.1:p.Glu335=
NM_001386305.1:c.967G=
NP_001373234.1:p.Glu323=
NM_001386306.1:c.808G=
NP_001373235.1:p.Glu270=