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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_000008.11:g.115413896G= , CM000670.2:g.115413896G=
GRCh38
NC_000008.10:g.116426124G= , CM000670.1:g.116426124G=
GRCh37
NC_000008.9:g.116495300G=
NCBI36
NG_012383.3:g.260106C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000395715.8:c.*127C=
MANE Select
ENSP00000379065.3:n.*127C=
ENST00000640765.1:c.*127C=
ENSP00000492037.1:n.*127C=
ENST00000220888.9:c.*127C=
ENSP00000220888.5:n.*127C=
ENST00000395715.7:c.*127C=
ENSP00000379065.3:n.*127C=
ENST00000519076.5:c.*127C=
ENSP00000428910.1:n.*127C=
NM_001282902.2:c.*127C=
NP_001269831.1:n.*127C=
NM_001282903.2:c.*127C=
NP_001269832.1:n.*127C=
NM_014112.4:c.*127C=
NP_054831.2:n.*127C=
XM_005251049.2:c.*127C=
XP_005251106.1:n.*127C=
XM_006716625.1:c.*127C=
XP_006716688.1:n.*127C=
XM_011517264.1:c.*127C=
XP_011515566.1:n.*127C=
XM_011517265.1:c.*127C=
XP_011515567.1:n.*127C=
XM_011517266.1:c.*127C=
XP_011515568.1:n.*127C=
XM_011517267.1:c.*127C=
XP_011515569.1:n.*127C=
XM_011517268.1:c.*127C=
XP_011515570.1:n.*127C=
NM_001330599.1:c.*127C=
NP_001317528.1:n.*127C=
XM_011517264.2:c.*127C=
XP_011515566.1:n.*127C=
XM_011517266.3:c.*127C=
XP_011515568.1:n.*127C=
XM_011517268.2:c.*127C=
XP_011515570.1:n.*127C=
NM_001282902.3:c.*127C=
NP_001269831.1:n.*127C=
NM_001282903.3:c.*127C=
NP_001269832.1:n.*127C=
NM_001330599.2:c.*127C=
NP_001317528.1:n.*127C=
NM_014112.5:c.*127C=
MANE Select
NP_054831.2:n.*127C=