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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.6394792T>C , CM000673.2:g.6394792T>C
GRCh38
NC_000011.9:g.6416022T>C , CM000673.1:g.6416022T>C
GRCh37
NC_000011.8:g.6372598T>C
NCBI36
NG_011780.1:g.9368T>C
NG_029615.1:g.29623A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342245.9:c.*185T>C
MANE Select
ENSP00000340409.4:n.*185T>C
ENST00000342245.8:c.*185T>C
ENSP00000340409.4:n.*185T>C
ENST00000526280.1:c.1138T>C
ENST00000533123.5:c.*808T>C
ENSP00000435950.1:n.*808T>C
ENST00000534405.5:c.*912T>C
ENSP00000434353.1:n.*912T>C
NM_000543.4:c.*185T>C
NP_000534.3:n.*185T>C
NM_001007593.2:c.*185T>C
NP_001007594.2:n.*185T>C
XM_011520303.1:c.*185T>C
XP_011518605.1:n.*185T>C
NM_001318087.1:c.*574T>C
NP_001305016.1:n.*574T>C
NM_001318088.1:c.*185T>C
NP_001305017.1:n.*185T>C
NM_001365135.1:c.*185T>C
NP_001352064.1:n.*185T>C
NR_027400.2:n.2094T>C
NR_134502.1:n.1633T>C
XR_001747940.2:n.2266T>C
XR_002957158.1:n.2448T>C
NM_000543.5:c.*185T>C
MANE Select
NP_000534.3:n.*185T>C
NM_001007593.3:c.*185T>C
NP_001007594.2:n.*185T>C
NM_001318087.2:c.*574T>C
NP_001305016.1:n.*574T>C
NM_001318088.2:c.*185T>C
NP_001305017.1:n.*185T>C
NM_001365135.2:c.*185T>C
NP_001352064.1:n.*185T>C
NR_027400.3:n.2034T>C
NR_134502.2:n.1573T>C