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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.80153067C= , CM000677.2:g.80153067C=
GRCh38
NC_000015.9:g.80445409C= , CM000677.1:g.80445409C=
GRCh37
NC_000015.8:g.78232464C=
NCBI36
NG_012833.1:g.5069C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000558767.6:c.13C=
ENSP00000507680.1:p.Pro5=
ENST00000682012.1:n.88C=
ENST00000684363.1:c.13C=
ENSP00000507314.1:p.Pro5=
ENST00000684569.1:n.58C=
ENST00000561421.6:c.13C=
MANE Select
ENSP00000453347.2:p.Pro5=
ENST00000261755.9:c.13C=
ENSP00000261755.5:p.Pro5=
ENST00000407106.5:c.13C=
ENSP00000385080.1:p.Pro5=
ENST00000537726.5:n.95C=
ENST00000558022.5:c.13C=
ENSP00000453152.1:p.Pro5=
ENST00000558767.5:n.274C=
ENST00000561369.1:n.93C=
ENST00000561421.5:c.13C=
ENSP00000453347.1:p.Pro5=
NM_000137.2:c.13C=
NP_000128.1:p.Pro5=
XM_024449872.1:c.13C=
XP_024305640.1:p.Pro5=
NM_000137.4:c.13C=
MANE Select
NP_000128.1:p.Pro5=
NM_001374377.1:c.13C=
NP_001361306.1:p.Pro5=
NM_001374380.1:c.13C=
NP_001361309.1:p.Pro5=