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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_000003.12:g.155853952G= , CM000665.2:g.155853952G=
GRCh38
NC_000003.11:g.155571741G= , CM000665.1:g.155571741G=
GRCh37
NC_000003.10:g.157054435G=
NCBI36
NG_023365.1:g.5508C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000468581.2:c.46C=
ENSP00000418847.2:p.Pro16=
ENST00000642438.1:c.46C=
ENSP00000495971.1:p.Pro16=
ENST00000643144.2:c.46C=
MANE Select
ENSP00000496241.1:p.Pro16=
ENST00000643876.1:c.46C=
ENSP00000495323.1:p.Pro16=
ENST00000644094.1:c.46C=
ENSP00000494476.1:p.Pro16=
ENST00000644855.1:c.46C=
ENSP00000493564.1:p.Pro16=
ENST00000646424.1:c.46C=
ENSP00000494846.1:p.Pro16=
ENST00000359479.7:c.46C=
ENSP00000352456.3:p.Pro16=
ENST00000392845.7:c.46C=
ENSP00000376587.2:p.Pro16=
NM_001190992.1:c.46C=
NP_001177921.1:p.Pro16=
NM_004733.3:c.46C=
NP_004724.1:p.Pro16=
XM_006713822.2:c.46C=
XP_006713885.1:p.Pro16=
XM_011513311.1:c.46C=
XP_011511613.1:p.Pro16=
XM_011513312.1:c.46C=
XP_011511614.1:p.Pro16=
NM_001363883.1:c.46C=
NP_001350812.1:p.Pro16=
XM_011513311.3:c.46C=
XP_011511613.1:p.Pro16=
XM_017007463.1:c.-580C=
XP_016862952.1:n.-580C=
XM_017007464.1:c.-580C=
XP_016862953.1:n.-580C=
XR_001740361.2:n.1407C=
XR_001740362.2:n.1407C=
XR_002959605.1:n.1407C=
NM_004733.4:c.46C=
MANE Select
NP_004724.1:p.Pro16=
NM_001190992.2:c.46C=
NP_001177921.1:p.Pro16=