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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.80153068C= , CM000677.2:g.80153068C=
GRCh38
NC_000015.9:g.80445410C= , CM000677.1:g.80445410C=
GRCh37
NC_000015.8:g.78232465C=
NCBI36
NG_012833.1:g.5070C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000558767.6:c.14C=
ENSP00000507680.1:p.Pro5=
ENST00000682012.1:n.89C=
ENST00000684363.1:c.14C=
ENSP00000507314.1:p.Pro5=
ENST00000684569.1:n.59C=
ENST00000561421.6:c.14C=
MANE Select
ENSP00000453347.2:p.Pro5=
ENST00000261755.9:c.14C=
ENSP00000261755.5:p.Pro5=
ENST00000407106.5:c.14C=
ENSP00000385080.1:p.Pro5=
ENST00000537726.5:n.96C=
ENST00000558022.5:c.14C=
ENSP00000453152.1:p.Pro5=
ENST00000558767.5:n.275C=
ENST00000561369.1:n.94C=
ENST00000561421.5:c.14C=
ENSP00000453347.1:p.Pro5=
NM_000137.2:c.14C=
NP_000128.1:p.Pro5=
XM_024449872.1:c.14C=
XP_024305640.1:p.Pro5=
NM_000137.4:c.14C=
MANE Select
NP_000128.1:p.Pro5=
NM_001374377.1:c.14C=
NP_001361306.1:p.Pro5=
NM_001374380.1:c.14C=
NP_001361309.1:p.Pro5=