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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143728390C>T , CM000670.2:g.143728390C>T
GRCh38
NC_000008.10:g.144810560C>T , CM000670.1:g.144810560C>T
GRCh37
NC_000008.9:g.144882548C>T
NCBI36
NG_016652.1:g.10355G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.1071G>A
MANE Select
ENSP00000373565.3:p.Glu357=
ENST00000650760.1:c.1674G>A
ENSP00000499217.1:p.Glu558=
ENST00000388913.3:c.1071G>A
ENSP00000373565.3:p.Glu357=
ENST00000395103.2:c.251G>A
NM_198488.3:c.1071G>A
NP_940890.3:p.Glu357=
XM_005250887.2:c.1128G>A
XP_005250944.1:p.Glu376=
XM_005250888.2:c.1089G>A
XP_005250945.1:p.Glu363=
XM_005250889.2:c.1071G>A
XP_005250946.1:p.Glu357=
XM_011516980.1:c.1392G>A
XP_011515282.1:p.Glu464=
XM_011516981.1:c.1239G>A
XP_011515283.1:p.Glu413=
XM_005250887.3:c.1128G>A
XP_005250944.1:p.Glu376=
XM_005250888.3:c.1089G>A
XP_005250945.1:p.Glu363=
XM_005250889.3:c.1071G>A
XP_005250946.1:p.Glu357=
XM_011516980.2:c.1674G>A
XP_011515282.2:p.Glu558=
XM_011516981.2:c.1239G>A
XP_011515283.1:p.Glu413=
XM_024447131.1:c.1071G>A
XP_024302899.1:p.Glu357=
NM_198488.4:c.1071G>A
NP_940890.3:p.Glu357=
NM_198488.5:c.1071G>A
MANE Select
NP_940890.4:p.Glu357=