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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.40097246G= , CM000663.2:g.40097246G=
GRCh38
NC_000001.10:g.40562918G= , CM000663.1:g.40562918G=
GRCh37
NC_000001.9:g.40335505G=
NCBI36
NG_009192.1:g.5225C= , LRG_690:g.5225C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000433473.8:c.-8C=
ENSP00000394863.4:n.-8C=
ENST00000439754.6:c.-8C=
ENSP00000403207.2:n.-8C=
ENST00000449045.7:c.-8C=
ENSP00000392293.2:n.-8C=
ENST00000527311.7:c.-8C=
ENSP00000436695.3:n.-8C=
ENST00000530704.6:c.-8C=
ENSP00000431655.1:n.-8C=
ENST00000641236.1:n.5C=
ENST00000641319.1:c.-8C=
ENSP00000493128.1:n.-8C=
ENST00000641471.1:c.-8C=
ENSP00000493146.1:n.-8C=
ENST00000641548.1:c.-8C=
ENSP00000492984.1:n.-8C=
ENST00000641691.1:c.-8C=
ENSP00000492910.1:n.-8C=
ENST00000642050.2:c.-8C=
MANE Select
ENSP00000493153.1:n.-8C=
ENST00000372779.8:c.-8C=
ENSP00000361865.4:n.-8C=
ENST00000433473.7:c.-8C=
ENSP00000394863.3:n.-8C=
ENST00000449045.6:c.-8C=
ENSP00000392293.2:n.-8C=
ENST00000527311.6:c.-8C=
ENSP00000436695.2:n.-8C=
ENST00000530704.5:c.-8C=
ENSP00000431655.1:n.-8C=
NM_000310.3:c.-8C= , LRG_690t1:c.-8C=
NP_000301.1:n.-8C=
NM_001142604.1:c.-8C=
NP_001136076.1:n.-8C=
XM_005271008.1:c.-8C=
XP_005271065.1:n.-8C=
NM_001363695.1:c.-8C=
NP_001350624.1:n.-8C=
NM_000310.4:c.-8C=
MANE Select
NP_000301.1:n.-8C=
NM_001142604.2:c.-8C=
NP_001136076.1:n.-8C=
NM_001363695.2:c.-8C=
NP_001350624.1:n.-8C=