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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_000017.11:g.60150001C>G , CM000679.2:g.60150001C>G
GRCh38
NC_000017.10:g.58227362C>G , CM000679.1:g.58227362C>G
GRCh37
NC_000017.9:g.55582144C>G
NCBI36
NG_012050.1:g.5061C>G
NG_012050.2:g.5061C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000300900.9:c.-34C>G
MANE Select
ENSP00000300900.3:n.-34C>G
ENST00000300900.8:c.-34C>G
ENSP00000300900.3:n.-34C>G
ENST00000585705.5:n.60C>G
ENST00000586876.1:c.-34C>G
ENSP00000467465.1:n.-34C>G
ENST00000591725.1:c.-392C>G
ENSP00000466964.1:n.-392C>G
NM_000717.3:c.-34C>G
NP_000708.1:n.-34C>G
XM_005257639.1:c.-34C>G
XP_005257696.1:n.-34C>G
NM_000717.4:c.-34C>G
NP_000708.1:n.-34C>G
NR_137422.1:n.66C>G
XM_005257639.3:c.-34C>G
XP_005257696.1:n.-34C>G
XR_001752604.2:n.60C>G
XR_001752605.2:n.60C>G
XR_001752606.2:n.60C>G
XR_001752607.2:n.60C>G
XR_001752608.2:n.60C>G
XR_001752609.2:n.60C>G
XR_001752610.2:n.60C>G
NM_000717.5:c.-34C>G
MANE Select
NP_000708.1:n.-34C>G
NR_137422.2:n.29C>G