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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_000001.11:g.154465333C= , CM000663.2:g.154465333C=
GRCh38
NC_000001.10:g.154437809C= , CM000663.1:g.154437809C=
GRCh37
NC_000001.9:g.152704433C=
NCBI36
NG_012087.1:g.65141C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368485.8:c.1360C=
MANE Select
ENSP00000357470.3:p.Arg454=
ENST00000344086.8:c.*168C=
ENSP00000340589.4:n.*168C=
ENST00000368485.7:c.1360C=
ENSP00000357470.3:p.Arg454=
NM_000565.3:c.1360C=
NP_000556.1:p.Arg454=
NM_181359.2:c.*168C=
NP_852004.1:n.*168C=
XM_005245139.1:c.*41C=
XP_005245196.1:n.*41C=
XM_005245140.1:c.*201C=
XP_005245197.1:n.*201C=
XM_006711298.1:c.1408C=
XP_006711361.1:p.Arg470=
XM_005245139.2:c.*41C=
XP_005245196.1:n.*41C=
XM_005245140.3:c.*201C=
XP_005245197.1:n.*201C=
XM_006711298.2:c.1408C=
XP_006711361.1:p.Arg470=
XM_017001199.2:c.1507C=
XP_016856688.1:p.Arg503=
XM_017001200.2:c.1459C=
XP_016856689.1:p.Arg487=
XM_017001201.2:c.*201C=
XP_016856690.1:n.*201C=
NM_000565.4:c.1360C=
MANE Select
NP_000556.1:p.Arg454=
NM_181359.3:c.*168C=
NP_852004.1:n.*168C=
NM_001382769.1:c.1459C=
NP_001369698.1:p.Arg487=
NM_001382770.1:c.1453C=
NP_001369699.1:p.Arg485=
NM_001382771.1:c.1408C=
NP_001369700.1:p.Arg470=
NM_001382772.1:c.1354C=
NP_001369701.1:p.Arg452=
NM_001382773.1:c.*168C=
NP_001369702.1:n.*168C=
NM_001382774.1:c.1000C=
NP_001369703.1:p.Arg334=