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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725312G>A , CM000682.2:g.46725312G>A
GRCh38
NC_000020.10:g.45353951G>A , CM000682.1:g.45353951G>A
GRCh37
NC_000020.9:g.44787358G>A
NCBI36
NG_016284.1:g.20673G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.276G>A
MANE Select
ENSP00000352216.2:p.Leu92=
ENST00000359271.3:c.276G>A
ENSP00000352216.2:p.Leu92=
ENST00000611837.1:n.428G>A
NM_030777.3:c.276G>A
NP_110404.1:p.Leu92=
XM_011529060.1:c.339G>A
XP_011527362.1:p.Leu113=
XM_011529061.1:c.285G>A
XP_011527363.1:p.Leu95=
XM_011529062.1:c.339G>A
XP_011527364.1:p.Leu113=
XM_011529063.1:c.339G>A
XP_011527365.1:p.Leu113=
XM_011529064.1:c.339G>A
XP_011527366.1:p.Leu113=
XM_011529065.1:c.339G>A
XP_011527367.1:p.Leu113=
XR_936641.1:n.475G>A
XM_011529060.2:c.339G>A
XP_011527362.1:p.Leu113=
XM_011529061.2:c.285G>A
XP_011527363.1:p.Leu95=
XM_011529062.2:c.339G>A
XP_011527364.1:p.Leu113=
XM_011529063.2:c.339G>A
XP_011527365.1:p.Leu113=
XM_011529064.2:c.339G>A
XP_011527366.1:p.Leu113=
XM_011529065.2:c.339G>A
XP_011527367.1:p.Leu113=
XM_017028087.2:c.276G>A
XP_016883576.1:p.Leu92=
XR_936641.2:n.462G>A
NM_030777.4:c.276G>A
MANE Select
NP_110404.1:p.Leu92=