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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_000012.12:g.57095850A= , CM000674.2:g.57095850A=
GRCh38
NC_000012.11:g.57489633A= , CM000674.1:g.57489633A=
GRCh37
NC_000012.10:g.55775900A=
NCBI36
NG_021272.1:g.20564T=
NG_021272.2:g.41290T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000300134.8:c.*722T=
MANE Select
ENSP00000300134.3:n.*722T=
ENST00000553533.2:c.*722T=
ENSP00000451546.2:n.*722T=
ENST00000651176.1:c.*1056T=
ENSP00000498693.1:n.*1056T=
ENST00000300134.7:c.*722T=
ENSP00000300134.3:n.*722T=
NM_001178078.1:c.*722T=
NP_001171549.1:n.*722T=
NM_001178079.1:c.*722T=
NP_001171550.1:n.*722T=
NM_001178080.1:c.*722T=
NP_001171551.1:n.*722T=
NM_001178081.1:c.*722T=
NP_001171552.1:n.*722T=
NM_003153.4:c.*722T=
NP_003144.3:n.*722T=
NR_033659.1:n.3433T=
XM_006719574.1:c.*722T=
XP_006719637.1:n.*722T=
XM_006719575.1:c.*722T=
XP_006719638.1:n.*722T=
XM_011538703.1:c.*722T=
XP_011537005.1:n.*722T=
XM_011538704.1:c.*722T=
XP_011537006.1:n.*722T=
XM_011538705.1:c.*722T=
XP_011537007.1:n.*722T=
XM_011538706.1:c.*722T=
XP_011537008.1:n.*722T=
XM_011538707.1:c.*722T=
XP_011537009.1:n.*722T=
XM_011538708.1:c.*722T=
XP_011537010.1:n.*722T=
XM_011538709.1:c.*722T=
XP_011537011.1:n.*722T=
XM_011538703.3:c.*722T=
XP_011537005.1:n.*722T=
XM_011538704.3:c.*722T=
XP_011537006.1:n.*722T=
XM_011538705.3:c.*722T=
XP_011537007.1:n.*722T=
XM_011538707.3:c.*722T=
XP_011537009.1:n.*722T=
XM_011538708.3:c.*722T=
XP_011537010.1:n.*722T=
NM_003153.5:c.*722T=
MANE Select
NP_003144.3:n.*722T=
NM_001178078.2:c.*722T=
NP_001171549.1:n.*722T=
NM_001178079.2:c.*722T=
NP_001171550.1:n.*722T=
NM_001178080.2:c.*722T=
NP_001171551.1:n.*722T=
NM_001178081.2:c.*722T=
NP_001171552.1:n.*722T=
NR_033659.2:n.3382T=