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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725290T= , CM000682.2:g.46725290T=
GRCh38
NC_000020.10:g.45353929T= , CM000682.1:g.45353929T=
GRCh37
NC_000020.9:g.44787336T=
NCBI36
NG_016284.1:g.20651T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.254T=
MANE Select
ENSP00000352216.2:p.Leu85=
ENST00000359271.3:c.254T=
ENSP00000352216.2:p.Leu85=
ENST00000611837.1:n.406T=
NM_030777.3:c.254T=
NP_110404.1:p.Leu85=
XM_011529060.1:c.317T=
XP_011527362.1:p.Leu106=
XM_011529061.1:c.263T=
XP_011527363.1:p.Leu88=
XM_011529062.1:c.317T=
XP_011527364.1:p.Leu106=
XM_011529063.1:c.317T=
XP_011527365.1:p.Leu106=
XM_011529064.1:c.317T=
XP_011527366.1:p.Leu106=
XM_011529065.1:c.317T=
XP_011527367.1:p.Leu106=
XR_936641.1:n.453T=
XM_011529060.2:c.317T=
XP_011527362.1:p.Leu106=
XM_011529061.2:c.263T=
XP_011527363.1:p.Leu88=
XM_011529062.2:c.317T=
XP_011527364.1:p.Leu106=
XM_011529063.2:c.317T=
XP_011527365.1:p.Leu106=
XM_011529064.2:c.317T=
XP_011527366.1:p.Leu106=
XM_011529065.2:c.317T=
XP_011527367.1:p.Leu106=
XM_017028087.2:c.254T=
XP_016883576.1:p.Leu85=
XR_936641.2:n.440T=
NM_030777.4:c.254T=
MANE Select
NP_110404.1:p.Leu85=