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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113932433G>C , CM000673.2:g.113932433G>C
GRCh38
NC_000011.9:g.113803155G>C , CM000673.1:g.113803155G>C
GRCh37
NC_000011.8:g.113308365G>C
NCBI36
NG_011483.1:g.32567G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260191.8:c.513G>C
MANE Select
ENSP00000260191.2:p.Leu171=
ENST00000260191.7:c.513G>C
ENSP00000260191.2:p.Leu171=
ENST00000260191.6:c.513G>C
ENSP00000260191.2:p.Leu171=
ENST00000537778.5:c.480G>C
ENSP00000443118.1:p.Leu160=
ENST00000543092.1:c.299G>C
NM_006028.4:c.513G>C
NP_006019.1:p.Leu171=
XM_011543063.1:c.480G>C
XP_011541365.1:p.Leu160=
XM_011543064.1:c.312G>C
XP_011541366.1:p.Leu104=
XM_011543065.1:c.306G>C
XP_011541367.1:p.Leu102=
XM_011543066.1:c.480G>C
XP_011541368.1:p.Leu160=
NM_001363563.1:c.480G>C
NP_001350492.1:p.Leu160=
XM_017018552.2:c.306G>C
XP_016874041.1:p.Leu102=
XM_024448767.1:c.219G>C
XP_024304535.1:p.Leu73=
XR_001748034.2:n.764G>C
NM_001363563.2:c.480G>C
NP_001350492.1:p.Leu160=
NM_006028.5:c.513G>C
MANE Select
NP_006019.1:p.Leu171=