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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_000023.11:g.154030101G>T , CM000685.2:g.154030101G>T
GRCh38
NC_000023.10:g.153295552G>T , CM000685.1:g.153295552G>T
GRCh37
NC_000023.9:g.152948746G>T
NCBI36
NG_007107.2:g.112027C>A
NG_007107.3:g.112003C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000303391.11:c.*266C>A
MANE Plus Clinical
ENSP00000301948.6:n.*266C>A
ENST00000453960.7:c.*266C>A
MANE Select
ENSP00000395535.2:n.*266C>A
ENST00000303391.10:c.*266C>A
ENSP00000301948.6:n.*266C>A
ENST00000619732.4:c.*193C>A
ENSP00000480973.1:n.*193C>A
NM_004992.3:c.*266C>A
NP_004983.1:n.*266C>A
XM_005274681.3:c.*266C>A
XP_005274738.1:n.*266C>A
XM_005274682.3:c.*266C>A
XP_005274739.1:n.*266C>A
XM_005274683.3:c.*266C>A
XP_005274740.1:n.*266C>A
XM_006724819.2:c.*266C>A
XP_006724882.1:n.*266C>A
XM_011531166.1:c.*266C>A
XP_011529468.1:n.*266C>A
XM_006724819.3:c.*266C>A
XP_006724882.1:n.*266C>A
XM_011531166.2:c.*266C>A
XP_011529468.1:n.*266C>A
XM_024452383.1:c.*266C>A
XP_024308151.1:n.*266C>A
XM_024452384.1:c.*266C>A
XP_024308152.1:n.*266C>A
NM_001110792.2:c.*266C>A
MANE Select
NP_001104262.1:n.*266C>A
NM_001316337.2:c.*266C>A
NP_001303266.1:n.*266C>A
NM_001369391.2:c.*266C>A
NP_001356320.1:n.*266C>A
NM_001369392.2:c.*266C>A
NP_001356321.1:n.*266C>A
NM_001369393.2:c.*266C>A
NP_001356322.1:n.*266C>A
NM_001369394.2:c.*266C>A
NP_001356323.1:n.*266C>A
NM_001386137.1:c.*266C>A
NP_001373066.1:n.*266C>A
NM_001386138.1:c.*266C>A
NP_001373067.1:n.*266C>A
NM_001386139.1:c.*266C>A
NP_001373068.1:n.*266C>A
NM_004992.4:c.*266C>A
MANE Plus Clinical
NP_004983.1:n.*266C>A