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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_000023.11:g.108156991G= , CM000685.2:g.108156991G=
GRCh38
NC_000023.10:g.107400221G= , CM000685.1:g.107400221G=
GRCh37
NC_000023.9:g.107286877G=
NCBI36
NG_012059.2:g.287484C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334504.12:c.*9C=
MANE Select
ENSP00000334733.7:n.*9C=
ENST00000334504.11:c.*9C=
ENSP00000334733.7:n.*9C=
ENST00000372216.8:c.*9C=
ENSP00000361290.4:n.*9C=
ENST00000394872.6:c.*9C=
ENSP00000378340.3:n.*9C=
ENST00000538570.5:c.*9C=
ENSP00000445236.1:n.*9C=
ENST00000545689.2:c.*9C=
ENSP00000443707.2:n.*9C=
ENST00000621266.4:c.*9C=
ENSP00000482970.1:n.*9C=
NM_001287758.1:c.*9C=
NP_001274687.1:n.*9C=
NM_001287759.1:c.*9C=
NP_001274688.1:n.*9C=
NM_001287760.1:c.*9C=
NP_001274689.1:n.*9C=
NM_001847.3:c.*9C=
NP_001838.2:n.*9C=
NM_033641.3:c.*9C=
NP_378667.1:n.*9C=
XM_006724617.2:c.*9C=
XP_006724680.1:n.*9C=
XM_011530852.1:c.*9C=
XP_011529154.1:n.*9C=
XM_011530853.1:c.*9C=
XP_011529155.1:n.*9C=
XM_006724617.3:c.*9C=
XP_006724680.1:n.*9C=
XM_011530852.2:c.*9C=
XP_011529154.1:n.*9C=
XM_011530853.3:c.*9C=
XP_011529155.1:n.*9C=
NM_001847.4:c.*9C=
NP_001838.2:n.*9C=
NM_033641.4:c.*9C=
MANE Select
NP_378667.1:n.*9C=
NM_001287758.2:c.*9C=
NP_001274687.1:n.*9C=
NM_001287759.2:c.*9C=
NP_001274688.1:n.*9C=
NM_001287760.2:c.*9C=
NP_001274689.1:n.*9C=