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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_000010.11:g.77791848C>G , CM000672.2:g.77791848C>G
GRCh38
NC_000010.10:g.79551606C>G , CM000672.1:g.79551606C>G
GRCh37
NC_000010.9:g.79221612C>G
NCBI36
NG_011484.1:g.139743G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372391.7:c.*592G>C
MANE Select
ENSP00000361467.2:n.*592G>C
ENST00000372391.6:c.*592G>C
ENSP00000361467.2:n.*592G>C
ENST00000424842.5:c.3235G>C
ENSP00000394797.1:n.3235G>C
ENST00000475613.6:n.6189G>C
NM_004747.3:c.*592G>C
NP_004738.3:n.*592G>C
XM_005270276.3:c.*592G>C
XP_005270333.1:n.*592G>C
XM_006718056.2:c.*592G>C
XP_006718119.1:n.*592G>C
XM_011540341.1:c.*592G>C
XP_011538643.1:n.*592G>C
XM_011540342.1:c.*592G>C
XP_011538644.1:n.*592G>C
XM_011540343.1:c.*592G>C
XP_011538645.1:n.*592G>C
XM_011540344.1:c.*592G>C
XP_011538646.1:n.*592G>C
XM_011540345.1:c.*592G>C
XP_011538647.1:n.*592G>C
XM_011540347.1:c.*592G>C
XP_011538649.1:n.*592G>C
XM_005270276.4:c.*592G>C
XP_005270333.1:n.*592G>C
XM_006718056.3:c.*592G>C
XP_006718119.1:n.*592G>C
XM_011540341.3:c.*592G>C
XP_011538643.1:n.*592G>C
XM_011540344.2:c.*592G>C
XP_011538646.1:n.*592G>C
XM_011540347.2:c.*592G>C
XP_011538649.1:n.*592G>C
XM_017016913.1:c.*592G>C
XP_016872402.1:n.*592G>C
XM_017016914.1:c.*592G>C
XP_016872403.1:n.*592G>C
XM_017016915.1:c.*592G>C
XP_016872404.1:n.*592G>C
XM_024448250.1:c.*592G>C
XP_024304018.1:n.*592G>C
NM_004747.4:c.*592G>C
MANE Select
NP_004738.3:n.*592G>C