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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.66021764A= , CM000685.2:g.66021764A=
GRCh38
NC_000023.10:g.65241606A= , CM000685.1:g.65241606A=
GRCh37
NC_000023.9:g.65158331A=
NCBI36
NG_021306.1:g.23362T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374737.9:c.*499T=
MANE Select
ENSP00000363869.4:n.*499T=
ENST00000374737.8:c.*499T=
ENSP00000363869.4:n.*499T=
ENST00000427538.5:c.1144T=
ENST00000455586.6:c.*1073T=
ENSP00000411581.2:n.*1073T=
NM_001100431.1:c.*499T=
NP_001093901.1:n.*499T=
NM_001184830.1:c.*1073T=
NP_001171759.1:n.*1073T=
NM_001184831.1:c.*1073T=
NP_001171760.1:n.*1073T=
NM_001257403.1:c.*321T=
NP_001244332.1:n.*321T=
NM_007268.2:c.*499T=
NP_009199.1:n.*499T=
XM_017029251.2:c.*321T=
XP_016884740.1:n.*321T=
NM_007268.3:c.*499T=
MANE Select
NP_009199.1:n.*499T=
NM_001100431.2:c.*499T=
NP_001093901.1:n.*499T=
NM_001184831.2:c.*1073T=
NP_001171760.1:n.*1073T=
NM_001257403.2:c.*321T=
NP_001244332.1:n.*321T=
NM_001184830.2:c.*1073T=
NP_001171759.1:n.*1073T=