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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46726880C= , CM000682.2:g.46726880C=
GRCh38
NC_000020.10:g.45355519C= , CM000682.1:g.45355519C=
GRCh37
NC_000020.9:g.44788926C=
NCBI36
NG_016284.1:g.22241C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.1305C=
MANE Select
ENSP00000352216.2:p.Leu435=
ENST00000359271.3:c.1305C=
ENSP00000352216.2:p.Leu435=
NM_030777.3:c.1305C=
NP_110404.1:p.Leu435=
XM_011529060.1:c.1368C=
XP_011527362.1:p.Leu456=
XM_011529061.1:c.1314C=
XP_011527363.1:p.Leu438=
XM_011529062.1:c.1417C=
XP_011527364.1:p.Gln473=
XM_011529063.1:c.1368C=
XP_011527365.1:p.Leu456=
XM_011529064.1:c.1417C=
XP_011527366.1:p.Gln473=
XM_011529065.1:c.1368C=
XP_011527367.1:p.Leu456=
XR_936641.1:n.1553C=
XM_011529060.2:c.1368C=
XP_011527362.1:p.Leu456=
XM_011529061.2:c.1314C=
XP_011527363.1:p.Leu438=
XM_011529062.2:c.1417C=
XP_011527364.1:p.Gln473=
XM_011529063.2:c.1368C=
XP_011527365.1:p.Leu456=
XM_011529064.2:c.1417C=
XP_011527366.1:p.Gln473=
XM_011529065.2:c.1368C=
XP_011527367.1:p.Leu456=
XM_017028087.2:c.1305C=
XP_016883576.1:p.Leu435=
XR_936641.2:n.1540C=
NM_030777.4:c.1305C=
MANE Select
NP_110404.1:p.Leu435=