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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50242529A= , CM000677.2:g.50242529A=
GRCh38
NC_000015.9:g.50534726A= , CM000677.1:g.50534726A=
GRCh37
NC_000015.8:g.48322018A=
NCBI36
NG_027487.1:g.28437T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1720T=
MANE Select
ENSP00000267845.3:p.Ser574=
ENST00000267845.7:c.1720T=
ENSP00000267845.3:p.Ser574=
ENST00000543581.5:c.1621T=
ENSP00000440252.1:p.Ser541=
ENST00000559816.1:n.1464T=
NM_001306146.1:c.1621T=
NP_001293075.1:p.Ser541=
NM_002112.3:c.1720T=
NP_002103.2:p.Ser574=
XM_011521479.1:c.1483T=
XP_011519781.1:p.Ser495=
XM_011521480.1:c.1288T=
XP_011519782.1:p.Ser430=
XM_017022094.1:c.1825T=
XP_016877583.1:p.Ser609=
XM_017022095.1:c.1726T=
XP_016877584.1:p.Ser576=
XM_017022096.1:c.1597T=
XP_016877585.1:p.Ser533=
XM_017022097.1:c.1588T=
XP_016877586.1:p.Ser530=
XM_017022098.1:c.1393T=
XP_016877587.1:p.Ser465=
NM_002112.4:c.1720T=
MANE Select
NP_002103.2:p.Ser574=
NM_001306146.2:c.1621T=
NP_001293075.1:p.Ser541=