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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.765778G= , CM000682.2:g.765778G=
GRCh38
NC_000020.10:g.746422G= , CM000682.1:g.746422G=
GRCh37
NC_000020.9:g.694422G=
NCBI36
NG_027687.1:g.7807C=
NG_027687.2:g.15208C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381944.5:c.-4C=
ENSP00000371370.3:n.-4C=
ENST00000473664.2:c.-4C=
ENSP00000502741.1:n.-4C=
ENST00000488495.3:c.-4C=
ENSP00000494009.1:n.-4C=
ENST00000645534.1:c.-4C=
MANE Select
ENSP00000494193.1:n.-4C=
ENST00000674666.1:c.-4C=
ENSP00000502783.1:n.-4C=
ENST00000675066.1:c.-4C=
ENSP00000501902.1:n.-4C=
ENST00000676154.1:c.-4C=
ENSP00000501807.1:n.-4C=
ENST00000217254.11:c.-4C=
ENSP00000217254.7:n.-4C=
ENST00000381944.4:c.-4C=
ENSP00000371370.3:n.-4C=
ENST00000473664.1:n.48C=
ENST00000632431.1:c.-4C=
ENSP00000488723.1:n.-4C=
NM_033409.3:c.-4C=
NP_212134.3:n.-4C=
XM_005260655.3:c.-4C=
XP_005260712.1:n.-4C=
XM_011529148.1:c.-4C=
XP_011527450.1:n.-4C=
XM_005260655.4:c.-4C=
XP_005260712.1:n.-4C=
XM_024451821.1:c.-4C=
XP_024307589.1:n.-4C=
NM_033409.4:c.-4C=
MANE Select
NP_212134.3:n.-4C=
NM_001370085.1:c.-4C=
NP_001357014.1:n.-4C=
NM_001370086.1:c.-4C=
NP_001357015.1:n.-4C=