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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_000023.11:g.108597555C= , CM000685.2:g.108597555C=
GRCh38
NC_000023.10:g.107840785C= , CM000685.1:g.107840785C=
GRCh37
NC_000023.9:g.107727441C=
NCBI36
NG_011977.1:g.162632C=
NG_011977.2:g.162632C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000328300.11:c.1766C=
MANE Select
ENSP00000331902.7:p.Pro589=
ENST00000361603.7:c.1766C=
ENSP00000354505.2:p.Pro589=
ENST00000328300.10:c.1766C=
ENSP00000331902.6:p.Pro589=
ENST00000361603.6:c.1766C=
ENSP00000354505.2:p.Pro589=
ENST00000483338.1:n.1222C=
NM_000495.4:c.1766C=
NP_000486.1:p.Pro589=
NM_033380.2:c.1766C=
NP_203699.1:p.Pro589=
XM_005262070.2:c.1766C=
XP_005262127.1:p.Pro589=
XM_005262072.3:c.1766C=
XP_005262129.1:p.Pro589=
XM_006724616.2:c.1766C=
XP_006724679.1:p.Pro589=
XM_011530849.1:c.1442C=
XP_011529151.1:p.Pro481=
XM_011530850.1:c.1766C=
XP_011529152.1:p.Pro589=
XM_011530849.2:c.1781C=
XP_011529151.2:p.Pro594=
XM_017029259.2:c.1781C=
XP_016884748.1:p.Pro594=
XM_017029260.1:c.1781C=
XP_016884749.1:p.Pro594=
XM_017029261.1:c.1781C=
XP_016884750.1:p.Pro594=
XM_017029262.2:c.1781C=
XP_016884751.1:p.Pro594=
XM_017029263.2:c.101C=
XP_016884752.1:p.Pro34=
NM_000495.5:c.1766C=
NP_000486.1:p.Pro589=
NM_033380.3:c.1766C=
MANE Select
NP_203699.1:p.Pro589=