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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_000002.12:g.168923290G>T , CM000664.2:g.168923290G>T
GRCh38
NC_000002.11:g.169779800G>T , CM000664.1:g.169779800G>T
GRCh37
NC_000002.10:g.169488046G>T
NCBI36
NG_007374.1:g.113034C>A
NG_007374.2:g.113107C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648875.1:c.226+1367C>A
ENST00000649448.1:c.2675C>A
ENSP00000497165.1:n.2675C>A
ENST00000650372.1:c.*332C>A
MANE Select
ENSP00000497931.1:n.*332C>A
ENST00000263817.6:c.*332C>A
ENSP00000263817.6:n.*332C>A
NM_003742.2:c.*332C>A
NP_003733.2:n.*332C>A
XM_006712817.2:c.*332C>A
XP_006712880.1:n.*332C>A
XM_011512077.1:c.*332C>A
XP_011510379.1:n.*332C>A
XM_011512078.1:c.*286C>A
XP_011510380.1:n.*286C>A
XM_011512079.1:c.*332C>A
XP_011510381.1:n.*332C>A
XM_011512081.1:c.*332C>A
XP_011510383.1:n.*332C>A
NM_003742.4:c.*332C>A
MANE Select
NP_003733.2:n.*332C>A
XM_006712817.3:c.*332C>A
XP_006712880.1:n.*332C>A
XM_011512077.2:c.*332C>A
XP_011510379.1:n.*332C>A
XM_011512078.2:c.*286C>A
XP_011510380.1:n.*286C>A
XM_011512081.2:c.*332C>A
XP_011510383.1:n.*332C>A
XM_017005165.1:c.3867+1367C>A
XP_016860654.1:n.3867+1367C>A
XM_017005166.1:c.*332C>A
XP_016860655.1:n.*332C>A
XM_017005167.1:c.*332C>A
XP_016860656.1:n.*332C>A