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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909846C= , CM000663.2:g.173909846C=
GRCh38
NC_000001.10:g.173878984C= , CM000663.1:g.173878984C=
GRCh37
NC_000001.9:g.172145607C=
NCBI36
NG_012462.1:g.12533G= , LRG_577:g.12533G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.859G=
MANE Select
ENSP00000356671.3:p.Glu287=
ENST00000367698.3:c.859G=
ENSP00000356671.3:p.Glu287=
ENST00000487183.1:n.510G=
ENST00000617423.4:c.559+2018G=
ENSP00000478688.1:n.559+2018G=
NM_000488.3:c.859G= , LRG_577t1:c.859G=
NP_000479.1:p.Glu287=
XM_005245198.2:c.715G=
XP_005245255.1:p.Glu239=
NM_001365052.1:c.715G=
NP_001351981.1:p.Glu239=
NM_000488.4:c.859G=
MANE Select
NP_000479.1:p.Glu287=
NM_001365052.2:c.715G=
NP_001351981.1:p.Glu239=
NM_001386302.1:c.982G=
NP_001373231.1:p.Glu328=
NM_001386303.1:c.940G=
NP_001373232.1:p.Glu314=
NM_001386304.1:c.838G=
NP_001373233.1:p.Glu280=
NM_001386305.1:c.802G=
NP_001373234.1:p.Glu268=
NM_001386306.1:c.643G=
NP_001373235.1:p.Glu215=