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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1772008C= , CM000679.2:g.1772008C=
GRCh38
NC_000017.10:g.1675302C= , CM000679.1:g.1675302C=
GRCh37
NC_000017.9:g.1622052C=
NCBI36
NG_028180.1:g.15044C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000254722.9:c.576C=
MANE Select
ENSP00000254722.4:p.Leu192=
ENST00000254722.8:c.576C=
ENSP00000254722.4:p.Leu192=
ENST00000570820.1:n.796C=
ENST00000572048.1:c.15C=
ENSP00000458484.1:p.Leu5=
ENST00000573763.1:c.-26C=
ENSP00000461405.1:n.-26C=
ENST00000576406.5:c.15C=
ENSP00000461214.1:p.Leu5=
NM_002615.5:c.576C=
NP_002606.3:p.Leu192=
NM_001329903.1:c.576C=
NP_001316832.1:p.Leu192=
NM_001329904.1:c.15C=
NP_001316833.1:p.Leu5=
NM_001329905.1:c.15C=
NP_001316834.1:p.Leu5=
NM_002615.6:c.576C=
NP_002606.3:p.Leu192=
NM_002615.7:c.576C=
MANE Select
NP_002606.3:p.Leu192=
NM_001329903.2:c.576C=
NP_001316832.1:p.Leu192=
NM_001329904.2:c.15C=
NP_001316833.1:p.Leu5=
NM_001329905.2:c.15C=
NP_001316834.1:p.Leu5=