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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.27232220C>T , CM000664.2:g.27232220C>T
GRCh38
NC_000002.11:g.27455088C>T , CM000664.1:g.27455088C>T
GRCh37
NC_000002.10:g.27308592C>T
NCBI36
NG_046394.1:g.19831C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264705.9:c.2641C>T
MANE Select
ENSP00000264705.3:p.Leu881=
ENST00000264705.8:c.2641C>T
ENSP00000264705.3:p.Leu881=
ENST00000403525.5:c.2452C>T
ENSP00000384510.1:p.Leu818=
ENST00000464159.1:n.389C>T
NM_001306079.1:c.2452C>T
NP_001293008.1:p.Leu818=
NM_004341.3:c.2641C>T
NP_004332.2:p.Leu881=
NM_004341.4:c.2641C>T
NP_004332.2:p.Leu881=
XM_005264555.2:c.2641C>T
XP_005264612.1:p.Leu881=
XM_005264556.2:c.2641C>T
XP_005264613.1:p.Leu881=
XM_005264557.2:c.2641C>T
XP_005264614.1:p.Leu881=
XM_006712101.1:c.2452C>T
XP_006712164.1:p.Leu818=
XM_006712101.3:c.2452C>T
XP_006712164.1:p.Leu818=
XM_024453131.1:c.367C>T
XP_024308899.1:p.Leu123=
NM_004341.5:c.2641C>T
MANE Select
NP_004332.2:p.Leu881=
NM_001306079.2:c.2452C>T
NP_001293008.1:p.Leu818=