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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_000015.10:g.63042746C>A , CM000677.2:g.63042746C>A
GRCh38
NC_000015.9:g.63334945C>A , CM000677.1:g.63334945C>A
GRCh37
NC_000015.8:g.61121998C>A
NCBI36
NG_007557.1:g.5108C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000559831.6:c.-84C>A
ENSP00000452977.2:n.-84C>A
ENST00000651344.1:n.99C>A
ENST00000288398.10:c.-84C>A
ENSP00000288398.6:n.-84C>A
ENST00000358278.7:c.-84C>A
ENSP00000351022.3:n.-84C>A
ENST00000560975.5:n.63C>A
ENST00000610733.1:c.-84C>A
ENSP00000477929.1:n.-84C>A
NM_000366.5:c.-84C>A
NP_000357.3:n.-84C>A
NM_001018004.1:c.-84C>A
NP_001018004.1:n.-84C>A
NM_001018005.1:c.-84C>A
NP_001018005.1:n.-84C>A
NM_001018006.1:c.-84C>A
NP_001018006.1:n.-84C>A
NM_001018007.1:c.-84C>A
NP_001018007.1:n.-84C>A
NM_001018020.1:c.-84C>A
NP_001018020.1:n.-84C>A
NM_001301244.1:c.-84C>A
NP_001288173.1:n.-84C>A
XM_005254637.1:c.-84C>A
XP_005254694.1:n.-84C>A
XM_005254638.2:c.-84C>A
XP_005254695.1:n.-84C>A
XM_005254639.2:c.-84C>A
XP_005254696.1:n.-84C>A
XM_005254640.2:c.-84C>A
XP_005254697.1:n.-84C>A
XM_005254641.2:c.-84C>A
XP_005254698.1:n.-84C>A
XM_005254645.1:c.-84C>A
XP_005254702.1:n.-84C>A
XM_006720667.2:c.-84C>A
XP_006720730.1:n.-84C>A
XM_006720669.2:c.-783C>A
XP_006720732.1:n.-783C>A
XM_005254639.4:c.-84C>A
XP_005254696.3:n.-84C>A
XM_006720667.4:c.-84C>A
XP_006720730.3:n.-84C>A
XM_017022534.2:c.-84C>A
XP_016878023.2:n.-84C>A
XM_017022535.2:c.-84C>A
XP_016878024.1:n.-84C>A
XM_017022536.2:c.-84C>A
XP_016878025.2:n.-84C>A
XM_017022537.2:c.-84C>A
XP_016878026.1:n.-84C>A
XM_017022538.2:c.-84C>A
XP_016878027.2:n.-84C>A
XM_017022539.2:c.-84C>A
XP_016878028.2:n.-84C>A