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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_000008.11:g.104466973T>G , CM000670.2:g.104466973T>G
GRCh38
NC_000008.10:g.105479201T>G , CM000670.1:g.105479201T>G
GRCh37
NC_000008.9:g.105548377T>G
NCBI36
NG_008840.1:g.5077A>C
NG_008840.2:g.5077A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000351513.7:c.-53A>C
MANE Select
ENSP00000276651.2:n.-53A>C
ENST00000351513.6:c.-53A>C
ENSP00000276651.2:n.-53A>C
ENST00000521573.2:c.-53A>C
ENSP00000430246.2:n.-53A>C
NM_001385.2:c.-53A>C
NP_001376.1:n.-53A>C
XM_005250818.2:c.-53A>C
XP_005250875.1:n.-53A>C
XM_006716518.2:c.-53A>C
XP_006716581.1:n.-53A>C
XM_011516903.1:c.-53A>C
XP_011515205.1:n.-53A>C
XM_011516904.1:c.-53A>C
XP_011515206.1:n.-53A>C
XR_928507.1:n.112+986T>G
XM_005250818.3:c.-53A>C
XP_005250875.1:n.-53A>C
XM_006716518.3:c.-53A>C
XP_006716581.1:n.-53A>C
XM_011516903.3:c.-53A>C
XP_011515205.1:n.-53A>C
XM_017013167.2:c.-53A>C
XP_016868656.1:n.-53A>C
XM_024447087.1:c.-53A>C
XP_024302855.1:n.-53A>C
XR_001745489.1:n.102A>C
XR_001745490.2:n.102A>C
XR_928507.2:n.233+986T>G
NM_001385.3:c.-53A>C
MANE Select
NP_001376.1:n.-53A>C