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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_000011.10:g.616968A>C , CM000673.2:g.616968A>C
GRCh38
NC_000011.9:g.616968A>C , CM000673.1:g.616968A>C
GRCh37
NC_000011.8:g.606968A>C
NCBI36
NG_029106.1:g.4032T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000358353.8:c.*383T>G
ENSP00000351118.4:n.*383T>G
ENST00000397542.7:c.*383T>G
MANE Select
ENSP00000380676.2:n.*383T>G
ENST00000358353.7:c.*383T>G
ENSP00000351118.3:n.*383T>G
ENST00000397542.6:c.*383T>G
ENSP00000380676.2:n.*383T>G
NM_001171968.1:c.*383T>G
NP_001165439.1:n.*383T>G
NM_021924.4:c.*383T>G
NP_068743.2:n.*383T>G
NM_031264.3:c.*383T>G
NP_112554.2:n.*383T>G
XM_006718253.2:c.*383T>G
XP_006718316.1:n.*383T>G
XM_011520188.1:c.*383T>G
XP_011518490.1:n.*383T>G
XM_011520189.1:c.*383T>G
XP_011518491.1:n.*383T>G
XM_011520190.1:c.*598T>G
XP_011518492.1:n.*598T>G
XM_006718253.3:c.*383T>G
XP_006718316.1:n.*383T>G
XM_011520188.2:c.*383T>G
XP_011518490.1:n.*383T>G
XM_011520189.2:c.*383T>G
XP_011518491.1:n.*383T>G
XM_011520190.2:c.*598T>G
XP_011518492.1:n.*598T>G
NM_001171968.2:c.*383T>G
NP_001165439.2:n.*383T>G
NM_021924.5:c.*383T>G
MANE Select
NP_068743.3:n.*383T>G
NM_031264.4:c.*383T>G
NP_112554.3:n.*383T>G
NM_001171968.3:c.*383T>G
NP_001165439.2:n.*383T>G
NM_031264.5:c.*383T>G
NP_112554.3:n.*383T>G