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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113932449C>T , CM000673.2:g.113932449C>T
GRCh38
NC_000011.9:g.113803171C>T , CM000673.1:g.113803171C>T
GRCh37
NC_000011.8:g.113308381C>T
NCBI36
NG_011483.1:g.32583C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260191.8:c.529C>T
MANE Select
ENSP00000260191.2:p.Leu177=
ENST00000260191.7:c.529C>T
ENSP00000260191.2:p.Leu177=
ENST00000260191.6:c.529C>T
ENSP00000260191.2:p.Leu177=
ENST00000537778.5:c.496C>T
ENSP00000443118.1:p.Leu166=
ENST00000543092.1:c.315C>T
NM_006028.4:c.529C>T
NP_006019.1:p.Leu177=
XM_011543063.1:c.496C>T
XP_011541365.1:p.Leu166=
XM_011543064.1:c.328C>T
XP_011541366.1:p.Leu110=
XM_011543065.1:c.322C>T
XP_011541367.1:p.Leu108=
XM_011543066.1:c.496C>T
XP_011541368.1:p.Leu166=
NM_001363563.1:c.496C>T
NP_001350492.1:p.Leu166=
XM_017018552.2:c.322C>T
XP_016874041.1:p.Leu108=
XM_024448767.1:c.235C>T
XP_024304535.1:p.Leu79=
XR_001748034.2:n.780C>T
NM_001363563.2:c.496C>T
NP_001350492.1:p.Leu166=
NM_006028.5:c.529C>T
MANE Select
NP_006019.1:p.Leu177=