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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173904047C= , CM000663.2:g.173904047C=
GRCh38
NC_000001.10:g.173873185C= , CM000663.1:g.173873185C=
GRCh37
NC_000001.9:g.172139808C=
NCBI36
NG_012462.1:g.18332G= , LRG_577:g.18332G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1237G=
MANE Select
ENSP00000356671.3:p.Glu413=
ENST00000367698.3:c.1237G=
ENSP00000356671.3:p.Glu413=
ENST00000617423.4:c.622G=
ENSP00000478688.1:p.Glu208=
NM_000488.3:c.1237G= , LRG_577t1:c.1237G=
NP_000479.1:p.Glu413=
XM_005245198.2:c.1093G=
XP_005245255.1:p.Glu365=
NM_001365052.1:c.1093G=
NP_001351981.1:p.Glu365=
NM_000488.4:c.1237G=
MANE Select
NP_000479.1:p.Glu413=
NM_001365052.2:c.1093G=
NP_001351981.1:p.Glu365=
NM_001386302.1:c.1360G=
NP_001373231.1:p.Glu454=
NM_001386303.1:c.1318G=
NP_001373232.1:p.Glu440=
NM_001386304.1:c.1216G=
NP_001373233.1:p.Glu406=
NM_001386305.1:c.1180G=
NP_001373234.1:p.Glu394=
NM_001386306.1:c.1021G=
NP_001373235.1:p.Glu341=