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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113932322T>C , CM000673.2:g.113932322T>C
GRCh38
NC_000011.9:g.113803044T>C , CM000673.1:g.113803044T>C
GRCh37
NC_000011.8:g.113308254T>C
NCBI36
NG_011483.1:g.32456T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260191.8:c.402T>C
MANE Select
ENSP00000260191.2:p.Tyr134=
ENST00000260191.7:c.402T>C
ENSP00000260191.2:p.Tyr134=
ENST00000260191.6:c.402T>C
ENSP00000260191.2:p.Tyr134=
ENST00000537778.5:c.369T>C
ENSP00000443118.1:p.Tyr123=
ENST00000543092.1:c.188T>C
NM_006028.4:c.402T>C
NP_006019.1:p.Tyr134=
XM_011543063.1:c.369T>C
XP_011541365.1:p.Tyr123=
XM_011543064.1:c.201T>C
XP_011541366.1:p.Tyr67=
XM_011543065.1:c.195T>C
XP_011541367.1:p.Tyr65=
XM_011543066.1:c.369T>C
XP_011541368.1:p.Tyr123=
NM_001363563.1:c.369T>C
NP_001350492.1:p.Tyr123=
XM_017018552.2:c.195T>C
XP_016874041.1:p.Tyr65=
XM_024448767.1:c.108T>C
XP_024304535.1:p.Tyr36=
XR_001748034.2:n.653T>C
NM_001363563.2:c.369T>C
NP_001350492.1:p.Tyr123=
NM_006028.5:c.402T>C
MANE Select
NP_006019.1:p.Tyr134=