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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.79559440G= , CM000672.2:g.79559440G=
GRCh38
NC_000010.10:g.81319196G= , CM000672.1:g.81319196G=
GRCh37
NG_013046.1:g.5968C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372325.7:c.44C=
MANE Select
ENSP00000361400.2:p.Ala15=
ENST00000640627.1:c.89C=
ENSP00000492537.1:p.Ala30=
ENST00000372325.6:c.44C=
ENSP00000361400.2:p.Ala15=
ENST00000372327.9:c.44C=
ENSP00000361402.5:p.Ala15=
ENST00000417041.1:c.44C=
ENSP00000397375.1:p.Ala15=
ENST00000492049.1:c.44C=
ENSP00000473275.1:p.Ala15=
NM_001098668.2:c.44C=
NP_001092138.1:p.Ala15=
XM_005270128.2:c.95C=
XP_005270185.1:p.Ala32=
XM_005270131.3:c.44C=
XP_005270188.1:p.Ala15=
XM_005270132.3:c.44C=
XP_005270189.1:p.Ala15=
XM_011540124.1:c.44C=
XP_011538426.1:p.Ala15=
XM_011540125.1:c.44C=
XP_011538427.1:p.Ala15=
NM_001098668.3:c.44C=
NP_001092138.1:p.Ala15=
NM_001320813.1:c.44C=
NP_001307742.1:p.Ala15=
NM_001320814.1:c.74C=
NP_001307743.1:p.Ala25=
XM_005270128.3:c.95C=
XP_005270185.1:p.Ala32=
XM_017016608.1:c.44C=
XP_016872097.1:p.Ala15=
NM_001098668.4:c.44C=
MANE Select
NP_001092138.1:p.Ala15=
NM_001320813.2:c.44C=
NP_001307742.1:p.Ala15=