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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113932427C>T , CM000673.2:g.113932427C>T
GRCh38
NC_000011.9:g.113803149C>T , CM000673.1:g.113803149C>T
GRCh37
NC_000011.8:g.113308359C>T
NCBI36
NG_011483.1:g.32561C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260191.8:c.507C>T
MANE Select
ENSP00000260191.2:p.Cys169=
ENST00000260191.7:c.507C>T
ENSP00000260191.2:p.Cys169=
ENST00000260191.6:c.507C>T
ENSP00000260191.2:p.Cys169=
ENST00000537778.5:c.474C>T
ENSP00000443118.1:p.Cys158=
ENST00000543092.1:c.293C>T
NM_006028.4:c.507C>T
NP_006019.1:p.Cys169=
XM_011543063.1:c.474C>T
XP_011541365.1:p.Cys158=
XM_011543064.1:c.306C>T
XP_011541366.1:p.Cys102=
XM_011543065.1:c.300C>T
XP_011541367.1:p.Cys100=
XM_011543066.1:c.474C>T
XP_011541368.1:p.Cys158=
NM_001363563.1:c.474C>T
NP_001350492.1:p.Cys158=
XM_017018552.2:c.300C>T
XP_016874041.1:p.Cys100=
XM_024448767.1:c.213C>T
XP_024304535.1:p.Cys71=
XR_001748034.2:n.758C>T
NM_001363563.2:c.474C>T
NP_001350492.1:p.Cys158=
NM_006028.5:c.507C>T
MANE Select
NP_006019.1:p.Cys169=