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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143728642C>T , CM000670.2:g.143728642C>T
GRCh38
NC_000008.10:g.144810812C>T , CM000670.1:g.144810812C>T
GRCh37
NC_000008.9:g.144882800C>T
NCBI36
NG_016652.1:g.10103G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.819G>A
MANE Select
ENSP00000373565.3:p.Glu273=
ENST00000650760.1:c.1422G>A
ENSP00000499217.1:p.Glu474=
ENST00000388913.3:c.819G>A
ENSP00000373565.3:p.Glu273=
NM_198488.3:c.819G>A
NP_940890.3:p.Glu273=
XM_005250887.2:c.876G>A
XP_005250944.1:p.Glu292=
XM_005250888.2:c.837G>A
XP_005250945.1:p.Glu279=
XM_005250889.2:c.819G>A
XP_005250946.1:p.Glu273=
XM_011516980.1:c.1140G>A
XP_011515282.1:p.Glu380=
XM_011516981.1:c.987G>A
XP_011515283.1:p.Glu329=
XM_005250887.3:c.876G>A
XP_005250944.1:p.Glu292=
XM_005250888.3:c.837G>A
XP_005250945.1:p.Glu279=
XM_005250889.3:c.819G>A
XP_005250946.1:p.Glu273=
XM_011516980.2:c.1422G>A
XP_011515282.2:p.Glu474=
XM_011516981.2:c.987G>A
XP_011515283.1:p.Glu329=
XM_024447131.1:c.819G>A
XP_024302899.1:p.Glu273=
NM_198488.4:c.819G>A
NP_940890.3:p.Glu273=
NM_198488.5:c.819G>A
MANE Select
NP_940890.4:p.Glu273=