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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113932304A= , CM000673.2:g.113932304A=
GRCh38
NC_000011.9:g.113803026A= , CM000673.1:g.113803026A=
GRCh37
NC_000011.8:g.113308236A=
NCBI36
NG_011483.1:g.32438A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260191.8:c.384A=
MANE Select
ENSP00000260191.2:p.Arg128=
ENST00000260191.7:c.384A=
ENSP00000260191.2:p.Arg128=
ENST00000260191.6:c.384A=
ENSP00000260191.2:p.Arg128=
ENST00000537778.5:c.351A=
ENSP00000443118.1:p.Arg117=
ENST00000543092.1:c.170A=
NM_006028.4:c.384A=
NP_006019.1:p.Arg128=
XM_011543063.1:c.351A=
XP_011541365.1:p.Arg117=
XM_011543064.1:c.183A=
XP_011541366.1:p.Arg61=
XM_011543065.1:c.177A=
XP_011541367.1:p.Arg59=
XM_011543066.1:c.351A=
XP_011541368.1:p.Arg117=
NM_001363563.1:c.351A=
NP_001350492.1:p.Arg117=
XM_017018552.2:c.177A=
XP_016874041.1:p.Arg59=
XM_024448767.1:c.90A=
XP_024304535.1:p.Arg30=
XR_001748034.2:n.635A=
NM_001363563.2:c.351A=
NP_001350492.1:p.Arg117=
NM_006028.5:c.384A=
MANE Select
NP_006019.1:p.Arg128=