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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725750G>C , CM000682.2:g.46725750G>C
GRCh38
NC_000020.10:g.45354389G>C , CM000682.1:g.45354389G>C
GRCh37
NC_000020.9:g.44787796G>C
NCBI36
NG_016284.1:g.21111G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.714G>C
MANE Select
ENSP00000352216.2:p.Leu238=
ENST00000359271.3:c.714G>C
ENSP00000352216.2:p.Leu238=
NM_030777.3:c.714G>C
NP_110404.1:p.Leu238=
XM_011529060.1:c.777G>C
XP_011527362.1:p.Leu259=
XM_011529061.1:c.723G>C
XP_011527363.1:p.Leu241=
XM_011529062.1:c.777G>C
XP_011527364.1:p.Leu259=
XM_011529063.1:c.777G>C
XP_011527365.1:p.Leu259=
XM_011529064.1:c.777G>C
XP_011527366.1:p.Leu259=
XM_011529065.1:c.777G>C
XP_011527367.1:p.Leu259=
XR_936641.1:n.913G>C
XM_011529060.2:c.777G>C
XP_011527362.1:p.Leu259=
XM_011529061.2:c.723G>C
XP_011527363.1:p.Leu241=
XM_011529062.2:c.777G>C
XP_011527364.1:p.Leu259=
XM_011529063.2:c.777G>C
XP_011527365.1:p.Leu259=
XM_011529064.2:c.777G>C
XP_011527366.1:p.Leu259=
XM_011529065.2:c.777G>C
XP_011527367.1:p.Leu259=
XM_017028087.2:c.714G>C
XP_016883576.1:p.Leu238=
XR_936641.2:n.900G>C
NM_030777.4:c.714G>C
MANE Select
NP_110404.1:p.Leu238=