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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725708A>C , CM000682.2:g.46725708A>C
GRCh38
NC_000020.10:g.45354347A>C , CM000682.1:g.45354347A>C
GRCh37
NC_000020.9:g.44787754A>C
NCBI36
NG_016284.1:g.21069A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.672A>C
MANE Select
ENSP00000352216.2:p.Ala224=
ENST00000359271.3:c.672A>C
ENSP00000352216.2:p.Ala224=
NM_030777.3:c.672A>C
NP_110404.1:p.Ala224=
XM_011529060.1:c.735A>C
XP_011527362.1:p.Ala245=
XM_011529061.1:c.681A>C
XP_011527363.1:p.Ala227=
XM_011529062.1:c.735A>C
XP_011527364.1:p.Ala245=
XM_011529063.1:c.735A>C
XP_011527365.1:p.Ala245=
XM_011529064.1:c.735A>C
XP_011527366.1:p.Ala245=
XM_011529065.1:c.735A>C
XP_011527367.1:p.Ala245=
XR_936641.1:n.871A>C
XM_011529060.2:c.735A>C
XP_011527362.1:p.Ala245=
XM_011529061.2:c.681A>C
XP_011527363.1:p.Ala227=
XM_011529062.2:c.735A>C
XP_011527364.1:p.Ala245=
XM_011529063.2:c.735A>C
XP_011527365.1:p.Ala245=
XM_011529064.2:c.735A>C
XP_011527366.1:p.Ala245=
XM_011529065.2:c.735A>C
XP_011527367.1:p.Ala245=
XM_017028087.2:c.672A>C
XP_016883576.1:p.Ala224=
XR_936641.2:n.858A>C
NM_030777.4:c.672A>C
MANE Select
NP_110404.1:p.Ala224=