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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.43787954C= , CM000669.2:g.43787954C=
GRCh38
NC_000007.13:g.43827553C= , CM000669.1:g.43827553C=
GRCh37
NC_000007.12:g.43794078C=
NCBI36
NG_031876.1:g.34282C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265523.9:c.63C=
MANE Select
ENSP00000265523.4:p.Ser21=
ENST00000265523.8:c.63C=
ENSP00000265523.4:p.Ser21=
ENST00000402924.5:c.63C=
ENSP00000385757.1:p.Ser21=
ENST00000424330.1:c.63C=
ENSP00000412005.1:p.Ser21=
ENST00000453612.1:n.87C=
NM_000712.3:c.63C=
NP_000703.2:p.Ser21=
NM_001253823.1:c.63C=
NP_001240752.1:p.Ser21=
XM_011515474.1:c.63C=
XP_011513776.1:p.Ser21=
XR_428136.2:n.265-2196G=
XR_927212.1:n.265-2196G=
XR_927213.1:n.265-2196G=
XM_011515474.3:c.63C=
XP_011513776.1:p.Ser21=
XM_017012520.2:c.63C=
XP_016868009.1:p.Ser21=
XM_024446867.1:c.63C=
XP_024302635.1:p.Ser21=
XR_001745190.1:n.266-2196G=
NM_000712.4:c.63C=
MANE Select
NP_000703.2:p.Ser21=
NM_001253823.2:c.63C=
NP_001240752.1:p.Ser21=