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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725435A>C , CM000682.2:g.46725435A>C
GRCh38
NC_000020.10:g.45354074A>C , CM000682.1:g.45354074A>C
GRCh37
NC_000020.9:g.44787481A>C
NCBI36
NG_016284.1:g.20796A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.399A>C
MANE Select
ENSP00000352216.2:p.Gly133=
ENST00000359271.3:c.399A>C
ENSP00000352216.2:p.Gly133=
ENST00000611837.1:n.551A>C
NM_030777.3:c.399A>C
NP_110404.1:p.Gly133=
XM_011529060.1:c.462A>C
XP_011527362.1:p.Gly154=
XM_011529061.1:c.408A>C
XP_011527363.1:p.Gly136=
XM_011529062.1:c.462A>C
XP_011527364.1:p.Gly154=
XM_011529063.1:c.462A>C
XP_011527365.1:p.Gly154=
XM_011529064.1:c.462A>C
XP_011527366.1:p.Gly154=
XM_011529065.1:c.462A>C
XP_011527367.1:p.Gly154=
XR_936641.1:n.598A>C
XM_011529060.2:c.462A>C
XP_011527362.1:p.Gly154=
XM_011529061.2:c.408A>C
XP_011527363.1:p.Gly136=
XM_011529062.2:c.462A>C
XP_011527364.1:p.Gly154=
XM_011529063.2:c.462A>C
XP_011527365.1:p.Gly154=
XM_011529064.2:c.462A>C
XP_011527366.1:p.Gly154=
XM_011529065.2:c.462A>C
XP_011527367.1:p.Gly154=
XM_017028087.2:c.399A>C
XP_016883576.1:p.Gly133=
XR_936641.2:n.585A>C
NM_030777.4:c.399A>C
MANE Select
NP_110404.1:p.Gly133=