×
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_000002.12:g.168922937G>T , CM000664.2:g.168922937G>T
GRCh38
NC_000002.11:g.169779447G>T , CM000664.1:g.169779447G>T
GRCh37
NC_000002.10:g.169487693G>T
NCBI36
NG_007374.1:g.113387C>A
NG_007374.2:g.113460C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648875.1:c.226+1720C>A
ENST00000650372.1:c.*685C>A
MANE Select
ENSP00000497931.1:n.*685C>A
XM_006712817.2:c.*685C>A
XP_006712880.1:n.*685C>A
XM_011512077.1:c.*685C>A
XP_011510379.1:n.*685C>A
XM_011512078.1:c.*639C>A
XP_011510380.1:n.*639C>A
XM_011512079.1:c.*685C>A
XP_011510381.1:n.*685C>A
XM_011512081.1:c.*685C>A
XP_011510383.1:n.*685C>A
NM_003742.4:c.*685C>A
MANE Select
NP_003733.2:n.*685C>A
XM_006712817.3:c.*685C>A
XP_006712880.1:n.*685C>A
XM_011512077.2:c.*685C>A
XP_011510379.1:n.*685C>A
XM_011512078.2:c.*639C>A
XP_011510380.1:n.*639C>A
XM_011512081.2:c.*685C>A
XP_011510383.1:n.*685C>A
XM_017005165.1:c.3867+1720C>A
XP_016860654.1:n.3867+1720C>A
XM_017005166.1:c.*685C>A
XP_016860655.1:n.*685C>A
XM_017005167.1:c.*685C>A
XP_016860656.1:n.*685C>A