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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32038447C= , CM000668.2:g.32038447C=
GRCh38
NC_000006.11:g.32006224C= , CM000668.1:g.32006224C=
GRCh37
NC_000006.10:g.32114203C=
NCBI36
NG_007941.2:g.5140C=
NG_007941.3:g.5143C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000644719.2:c.25C=
MANE Select
ENSP00000496625.1:p.Leu9=
ENST00000418967.6:c.25C=
ENSP00000408860.2:p.Leu9=
ENST00000435122.3:c.25C=
ENSP00000415043.2:p.Leu9=
ENST00000466779.5:c.25C=
ENSP00000417321.1:p.Leu9=
ENST00000469053.5:c.25C=
ENSP00000418104.1:p.Leu9=
ENST00000471671.4:c.25C=
ENSP00000418561.1:p.Leu9=
ENST00000478281.5:c.25C=
ENSP00000419572.1:p.Leu9=
ENST00000479074.5:n.83C=
ENST00000479730.5:n.83C=
ENST00000480027.1:n.78C=
ENST00000483041.5:n.78C=
ENST00000486063.5:n.108C=
ENST00000488465.1:n.33C=
NM_000500.7:c.25C=
NP_000491.4:p.Leu9=
NM_001128590.3:c.25C=
NP_001122062.3:p.Leu9=
XM_011514314.1:c.-400C=
XP_011512616.1:n.-400C=
NM_000500.9:c.25C=
MANE Select
NP_000491.4:p.Leu9=
NM_001368143.1:c.-400C=
NP_001355072.1:n.-400C=
NM_001368144.1:c.-310C=
NP_001355073.1:n.-310C=
NM_001128590.4:c.25C=
NP_001122062.3:p.Leu9=
NM_001368143.2:c.-400C=
NP_001355072.1:n.-400C=
NM_001368144.2:c.-310C=
NP_001355073.1:n.-310C=