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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.84145300G>A , CM000678.2:g.84145300G>A
GRCh38
NC_000016.9:g.84178905G>A , CM000678.1:g.84178905G>A
GRCh37
NC_000016.8:g.82736406G>A
NCBI36
NG_021174.1:g.5041G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000570298.5:n.14G>A
NM_178452.4:c.-141G>A
NP_848547.4:n.-141G>A
XM_006721129.1:c.-141G>A
XP_006721192.1:n.-141G>A
XM_011522850.1:c.-141G>A
XP_011521152.1:n.-141G>A
XM_011522851.1:c.-141G>A
XP_011521153.1:n.-141G>A
XM_011522852.1:c.-141G>A
XP_011521154.1:n.-141G>A
XM_011522853.1:c.-141G>A
XP_011521155.1:n.-141G>A
XM_011522854.1:c.-141G>A
XP_011521156.1:n.-141G>A
XM_011522855.1:c.-141G>A
XP_011521157.1:n.-141G>A
XM_011522856.1:c.-716G>A
XP_011521158.1:n.-716G>A
XM_011522857.1:c.-141G>A
XP_011521159.1:n.-141G>A
XM_011522858.1:c.-141G>A
XP_011521160.1:n.-141G>A
NM_178452.5:c.-141G>A
NP_848547.4:n.-141G>A
XM_006721129.3:c.-141G>A
XP_006721192.1:n.-141G>A
XM_011522853.3:c.-141G>A
XP_011521155.1:n.-141G>A
XM_011522854.3:c.-141G>A
XP_011521156.1:n.-141G>A
XM_011522855.3:c.-141G>A
XP_011521157.1:n.-141G>A
XM_011522857.3:c.-141G>A
XP_011521159.1:n.-141G>A
XM_011522858.3:c.-141G>A
XP_011521160.1:n.-141G>A
XM_017022918.2:c.-141G>A
XP_016878407.1:n.-141G>A
XM_017022919.1:c.-716G>A
XP_016878408.1:n.-716G>A
XR_001751829.2:n.34G>A
XR_001751830.2:n.34G>A
XR_001751831.2:n.34G>A
XR_001751832.1:n.29G>A