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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_000016.10:g.3727676G>A , CM000678.2:g.3727676G>A
GRCh38
NC_000016.9:g.3777677G>A , CM000678.1:g.3777677G>A
GRCh37
NC_000016.8:g.3717678G>A
NCBI36
NG_009873.1:g.157445C>T
NG_009873.2:g.158038C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262367.10:c.*42C>T
MANE Select
ENSP00000262367.5:n.*42C>T
ENST00000262367.9:c.*42C>T
ENSP00000262367.5:n.*42C>T
ENST00000382070.7:c.*42C>T
ENSP00000371502.3:n.*42C>T
NM_001079846.1:c.*42C>T
NP_001073315.1:n.*42C>T
NM_004380.2:c.*42C>T
NP_004371.2:n.*42C>T
XM_005255124.3:c.*42C>T
XP_005255181.1:n.*42C>T
XM_005255125.3:c.*42C>T
XP_005255182.1:n.*42C>T
XM_006720848.2:c.*42C>T
XP_006720911.1:n.*42C>T
XM_011522380.1:c.*42C>T
XP_011520682.1:n.*42C>T
XM_011522381.1:c.*42C>T
XP_011520683.1:n.*42C>T
XM_005255124.4:c.*42C>T
XP_005255181.1:n.*42C>T
XM_005255125.4:c.*42C>T
XP_005255182.1:n.*42C>T
XM_006720848.3:c.*42C>T
XP_006720911.1:n.*42C>T
XM_011522381.2:c.*42C>T
XP_011520683.1:n.*42C>T
XM_017022944.1:c.*42C>T
XP_016878433.1:n.*42C>T
NM_004380.3:c.*42C>T
MANE Select
NP_004371.2:n.*42C>T