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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_000016.10:g.55656132G>A , CM000678.2:g.55656132G>A
GRCh38
NC_000016.9:g.55690044G>A , CM000678.1:g.55690044G>A
GRCh37
NC_000016.8:g.54247545G>A
NCBI36
NG_016969.1:g.5503G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000568943.6:c.-89G>A
MANE Select
ENSP00000457473.1:n.-89G>A
ENST00000414754.7:c.-89G>A
ENSP00000394956.3:n.-89G>A
ENST00000568529.6:c.-89G>A
ENSP00000456377.2:n.-89G>A
ENST00000568943.5:c.-89G>A
ENSP00000457473.1:n.-89G>A
NM_001172501.1:c.-89G>A
NP_001165972.1:n.-89G>A
XM_011523295.1:c.-89G>A
XP_011521597.1:n.-89G>A
XM_011523296.1:c.-89G>A
XP_011521598.1:n.-89G>A
XM_011523297.1:c.-89G>A
XP_011521599.1:n.-89G>A
XM_011523298.1:c.-89G>A
XP_011521600.1:n.-89G>A
XR_933403.1:n.529G>A
XM_011523295.2:c.-89G>A
XP_011521597.1:n.-89G>A
XM_011523296.2:c.-89G>A
XP_011521598.1:n.-89G>A
XM_011523297.3:c.-89G>A
XP_011521599.1:n.-89G>A
XM_011523298.2:c.-89G>A
XP_011521600.1:n.-89G>A
XR_933403.3:n.205G>A
NM_001172501.2:c.-89G>A
NP_001165972.1:n.-89G>A
NM_001172501.3:c.-89G>A
MANE Select
NP_001165972.1:n.-89G>A