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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50242496G= , CM000677.2:g.50242496G=
GRCh38
NC_000015.9:g.50534693G= , CM000677.1:g.50534693G=
GRCh37
NC_000015.8:g.48321985G=
NCBI36
NG_027487.1:g.28470C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1753C=
MANE Select
ENSP00000267845.3:p.Leu585=
ENST00000267845.7:c.1753C=
ENSP00000267845.3:p.Leu585=
ENST00000543581.5:c.1654C=
ENSP00000440252.1:p.Leu552=
ENST00000559816.1:n.1497C=
NM_001306146.1:c.1654C=
NP_001293075.1:p.Leu552=
NM_002112.3:c.1753C=
NP_002103.2:p.Leu585=
XM_011521479.1:c.1516C=
XP_011519781.1:p.Leu506=
XM_011521480.1:c.1321C=
XP_011519782.1:p.Leu441=
XM_017022094.1:c.1858C=
XP_016877583.1:p.Leu620=
XM_017022095.1:c.1759C=
XP_016877584.1:p.Leu587=
XM_017022096.1:c.1630C=
XP_016877585.1:p.Leu544=
XM_017022097.1:c.1621C=
XP_016877586.1:p.Leu541=
XM_017022098.1:c.1426C=
XP_016877587.1:p.Leu476=
NM_002112.4:c.1753C=
MANE Select
NP_002103.2:p.Leu585=
NM_001306146.2:c.1654C=
NP_001293075.1:p.Leu552=