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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_000014.9:g.24080998T>C , CM000676.2:g.24080998T>C
GRCh38
NC_000014.8:g.24550207T>C , CM000676.1:g.24550207T>C
GRCh37
NC_000014.7:g.23620047T>C
NCBI36
NG_011697.1:g.8626A>G
NG_011697.2:g.39017A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000561028.6:c.*238A>G
MANE Select
ENSP00000454062.2:n.*238A>G
ENST00000396997.1:c.*238A>G
ENSP00000380193.1:n.*238A>G
ENST00000397002.6:c.*238A>G
ENSP00000380197.2:n.*238A>G
ENST00000561028.5:c.*238A>G
ENSP00000454062.1:n.*238A>G
NM_006177.3:c.*238A>G
NP_006168.1:n.*238A>G
XM_005267708.3:c.*238A>G
XP_005267765.1:n.*238A>G
XM_005267709.3:c.*238A>G
XP_005267766.1:n.*238A>G
XM_005267710.3:c.*238A>G
XP_005267767.1:n.*238A>G
XM_011536801.1:c.*238A>G
XP_011535103.1:n.*238A>G
XM_011536802.1:c.*238A>G
XP_011535104.1:n.*238A>G
XM_011536803.1:c.*238A>G
XP_011535105.1:n.*238A>G
XM_011536804.1:c.*238A>G
XP_011535106.1:n.*238A>G
XM_011536805.1:c.*238A>G
XP_011535107.1:n.*238A>G
XM_011536806.1:c.*238A>G
XP_011535108.1:n.*238A>G
NM_001354768.1:c.*238A>G
NP_001341697.1:n.*238A>G
NM_001354769.1:c.*238A>G
NP_001341698.1:n.*238A>G
NM_001354770.1:c.*238A>G
NP_001341699.1:n.*238A>G
NM_006177.4:c.*238A>G
NP_006168.1:n.*238A>G
XM_011536801.2:c.*238A>G
XP_011535103.2:n.*238A>G
XM_011536804.2:c.*238A>G
XP_011535106.1:n.*238A>G
XM_011536805.2:c.*238A>G
XP_011535107.1:n.*238A>G
XM_011536806.2:c.*238A>G
XP_011535108.2:n.*238A>G
NM_001354768.3:c.*238A>G
MANE Select
NP_001341697.1:n.*238A>G
NM_001354770.2:c.*238A>G
NP_001341699.1:n.*238A>G
NM_006177.5:c.*238A>G
NP_006168.1:n.*238A>G