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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_000011.10:g.6394795C>A , CM000673.2:g.6394795C>A
GRCh38
NC_000011.9:g.6416025C>A , CM000673.1:g.6416025C>A
GRCh37
NC_000011.8:g.6372601C>A
NCBI36
NG_011780.1:g.9371C>A
NG_029615.1:g.29620G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342245.9:c.*188C>A
MANE Select
ENSP00000340409.4:n.*188C>A
ENST00000342245.8:c.*188C>A
ENSP00000340409.4:n.*188C>A
ENST00000526280.1:c.1141C>A
ENST00000533123.5:c.*811C>A
ENSP00000435950.1:n.*811C>A
ENST00000534405.5:c.*915C>A
ENSP00000434353.1:n.*915C>A
NM_000543.4:c.*188C>A
NP_000534.3:n.*188C>A
NM_001007593.2:c.*188C>A
NP_001007594.2:n.*188C>A
XM_011520303.1:c.*188C>A
XP_011518605.1:n.*188C>A
NM_001318087.1:c.*577C>A
NP_001305016.1:n.*577C>A
NM_001318088.1:c.*188C>A
NP_001305017.1:n.*188C>A
NM_001365135.1:c.*188C>A
NP_001352064.1:n.*188C>A
NR_027400.2:n.2097C>A
NR_134502.1:n.1636C>A
XR_001747940.2:n.2269C>A
XR_002957158.1:n.2451C>A
NM_000543.5:c.*188C>A
MANE Select
NP_000534.3:n.*188C>A
NM_001007593.3:c.*188C>A
NP_001007594.2:n.*188C>A
NM_001318087.2:c.*577C>A
NP_001305016.1:n.*577C>A
NM_001318088.2:c.*188C>A
NP_001305017.1:n.*188C>A
NM_001365135.2:c.*188C>A
NP_001352064.1:n.*188C>A
NR_027400.3:n.2037C>A
NR_134502.2:n.1576C>A