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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725741C>A , CM000682.2:g.46725741C>A
GRCh38
NC_000020.10:g.45354380C>A , CM000682.1:g.45354380C>A
GRCh37
NC_000020.9:g.44787787C>A
NCBI36
NG_016284.1:g.21102C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.705C>A
MANE Select
ENSP00000352216.2:p.Gly235=
ENST00000359271.3:c.705C>A
ENSP00000352216.2:p.Gly235=
NM_030777.3:c.705C>A
NP_110404.1:p.Gly235=
XM_011529060.1:c.768C>A
XP_011527362.1:p.Gly256=
XM_011529061.1:c.714C>A
XP_011527363.1:p.Gly238=
XM_011529062.1:c.768C>A
XP_011527364.1:p.Gly256=
XM_011529063.1:c.768C>A
XP_011527365.1:p.Gly256=
XM_011529064.1:c.768C>A
XP_011527366.1:p.Gly256=
XM_011529065.1:c.768C>A
XP_011527367.1:p.Gly256=
XR_936641.1:n.904C>A
XM_011529060.2:c.768C>A
XP_011527362.1:p.Gly256=
XM_011529061.2:c.714C>A
XP_011527363.1:p.Gly238=
XM_011529062.2:c.768C>A
XP_011527364.1:p.Gly256=
XM_011529063.2:c.768C>A
XP_011527365.1:p.Gly256=
XM_011529064.2:c.768C>A
XP_011527366.1:p.Gly256=
XM_011529065.2:c.768C>A
XP_011527367.1:p.Gly256=
XM_017028087.2:c.705C>A
XP_016883576.1:p.Gly235=
XR_936641.2:n.891C>A
NM_030777.4:c.705C>A
MANE Select
NP_110404.1:p.Gly235=