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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42998790C= , CM000679.2:g.42998790C=
GRCh38
NC_000017.10:g.41150807C= , CM000679.1:g.41150807C=
GRCh37
NC_000017.9:g.38404333C=
NCBI36
NG_053099.1:g.5518C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000253788.12:c.40C=
MANE Select
ENSP00000253788.5:p.Leu14=
ENST00000589913.6:c.40C=
ENSP00000464813.1:p.Leu14=
ENST00000590864.2:c.40C=
ENSP00000467939.2:p.Leu14=
ENST00000253788.9:c.40C=
ENSP00000253788.4:p.Leu14=
ENST00000587478.1:n.95C=
ENST00000588830.1:c.40C=
ENSP00000468468.1:p.Leu14=
ENST00000589037.5:c.40C=
ENSP00000467587.1:p.Leu14=
ENST00000589913.5:c.40C=
ENSP00000464813.1:p.Leu14=
ENST00000593262.1:n.372C=
NM_000988.3:c.40C=
NP_000979.1:p.Leu14=
NM_000988.5:c.40C=
MANE Select
NP_000979.1:p.Leu14=
NM_001349921.1:c.40C=
NP_001336850.1:p.Leu14=
NM_001349922.1:c.40C=
NP_001336851.1:p.Leu14=
NR_146327.1:n.123C=
NM_001349921.2:c.40C=
NP_001336850.1:p.Leu14=
NM_001349922.2:c.40C=
NP_001336851.1:p.Leu14=
NR_146327.2:n.95C=