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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50242312C= , CM000677.2:g.50242312C=
GRCh38
NC_000015.9:g.50534509C= , CM000677.1:g.50534509C=
GRCh37
NC_000015.8:g.48321801C=
NCBI36
NG_027487.1:g.28654G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1937G=
MANE Select
ENSP00000267845.3:p.Ser646=
ENST00000267845.7:c.1937G=
ENSP00000267845.3:p.Ser646=
ENST00000543581.5:c.1838G=
ENSP00000440252.1:p.Ser613=
ENST00000559816.1:n.1681G=
NM_001306146.1:c.1838G=
NP_001293075.1:p.Ser613=
NM_002112.3:c.1937G=
NP_002103.2:p.Ser646=
XM_011521479.1:c.1700G=
XP_011519781.1:p.Ser567=
XM_011521480.1:c.1505G=
XP_011519782.1:p.Ser502=
XM_017022094.1:c.2042G=
XP_016877583.1:p.Ser681=
XM_017022095.1:c.1943G=
XP_016877584.1:p.Ser648=
XM_017022096.1:c.1814G=
XP_016877585.1:p.Ser605=
XM_017022097.1:c.1805G=
XP_016877586.1:p.Ser602=
XM_017022098.1:c.1610G=
XP_016877587.1:p.Ser537=
NM_002112.4:c.1937G=
MANE Select
NP_002103.2:p.Ser646=
NM_001306146.2:c.1838G=
NP_001293075.1:p.Ser613=