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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.91234835G= , CM000676.2:g.91234835G=
GRCh38
NC_000014.8:g.91701179G= , CM000676.1:g.91701179G=
GRCh37
NC_000014.7:g.90770932G=
NCBI36
NG_052988.1:g.24046C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650645.1:c.216C=
MANE Select
ENSP00000498702.1:p.Cys72=
ENST00000529102.1:c.216C=
ENSP00000432740.1:p.Cys72=
ENST00000531499.2:c.216C=
ENSP00000434045.2:p.Cys72=
ENST00000535815.5:c.216C=
ENSP00000440797.1:p.Cys72=
NM_001177676.1:c.216C=
NP_001171147.1:p.Cys72=
NM_003485.3:c.216C=
NP_003476.3:p.Cys72=
XM_005268110.3:c.246C=
XP_005268167.1:p.Cys82=
XM_005268111.2:c.246C=
XP_005268168.1:p.Cys82=
XM_005268112.2:c.246C=
XP_005268169.1:p.Cys82=
XM_006720262.2:c.246C=
XP_006720325.1:p.Cys82=
XM_011537196.1:c.246C=
XP_011535498.1:p.Cys82=
XM_011537197.1:c.246C=
XP_011535499.1:p.Cys82=
XM_011537198.1:c.246C=
XP_011535500.1:p.Cys82=
XM_011537199.1:c.246C=
XP_011535501.1:p.Cys82=
XM_011537200.1:c.246C=
XP_011535502.1:p.Cys82=
NM_001348437.1:c.216C=
NP_001335366.1:p.Cys72=
XM_005268110.4:c.246C=
XP_005268167.1:p.Cys82=
XM_005268111.3:c.246C=
XP_005268168.1:p.Cys82=
XM_005268112.3:c.246C=
XP_005268169.1:p.Cys82=
XM_006720262.3:c.246C=
XP_006720325.1:p.Cys82=
XM_011537196.2:c.246C=
XP_011535498.1:p.Cys82=
XM_011537197.3:c.246C=
XP_011535499.1:p.Cys82=
XM_011537198.2:c.246C=
XP_011535500.1:p.Cys82=
XM_011537199.2:c.246C=
XP_011535501.1:p.Cys82=
NM_001177676.2:c.216C=
MANE Select
NP_001171147.1:p.Cys72=