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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_000015.10:g.90966344C>G , CM000677.2:g.90966344C>G
GRCh38
NC_000015.9:g.91509574C>G , CM000677.1:g.91509574C>G
GRCh37
NC_000015.8:g.89310578C>G
NCBI36
NG_050647.1:g.33308G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000394249.8:c.*787G>C
MANE Select
ENSP00000377793.3:n.*787G>C
ENST00000643536.1:c.*4412G>C
ENSP00000494429.1:n.*4412G>C
ENST00000361188.9:c.*787G>C
ENSP00000354679.5:n.*787G>C
ENST00000394249.7:c.*787G>C
ENSP00000377793.3:n.*787G>C
ENST00000556972.6:c.434G>C
ENSP00000456737.1:n.434G>C
NM_001267580.1:c.*830G>C
NP_001254509.1:n.*830G>C
NM_003981.3:c.*787G>C
NP_003972.1:n.*787G>C
NM_199413.2:c.*787G>C
NP_955445.1:n.*787G>C
XM_005254987.1:c.*830G>C
XP_005255044.1:n.*830G>C
XM_006720759.1:c.*881G>C
XP_006720822.1:n.*881G>C
XM_006720760.1:c.*293G>C
XP_006720823.1:n.*293G>C
XM_011522187.1:c.*235G>C
XP_011520489.1:n.*235G>C
XM_011522188.1:c.*235G>C
XP_011520490.1:n.*235G>C
XM_011522189.1:c.*235G>C
XP_011520491.1:n.*235G>C
XM_011522190.1:c.*235G>C
XP_011520492.1:n.*235G>C
XM_011522192.1:c.*235G>C
XP_011520494.1:n.*235G>C
XM_005254987.3:c.*830G>C
XP_005255044.1:n.*830G>C
XM_006720759.2:c.*881G>C
XP_006720822.1:n.*881G>C
XM_006720760.2:c.*293G>C
XP_006720823.1:n.*293G>C
XM_011522187.2:c.*235G>C
XP_011520489.1:n.*235G>C
XM_011522188.3:c.*235G>C
XP_011520490.1:n.*235G>C
XM_011522189.2:c.*235G>C
XP_011520491.1:n.*235G>C
XM_011522191.3:c.*332G>C
XP_011520493.1:n.*332G>C
XM_011522192.2:c.*235G>C
XP_011520494.1:n.*235G>C
XM_017022712.2:c.*787G>C
XP_016878201.1:n.*787G>C
XM_017022713.2:c.*787G>C
XP_016878202.1:n.*787G>C
XM_017022715.2:c.*787G>C
XP_016878204.1:n.*787G>C
XM_017022716.2:c.*787G>C
XP_016878205.1:n.*787G>C
XM_017022717.1:c.*830G>C
XP_016878206.1:n.*830G>C
NM_003981.4:c.*787G>C
MANE Select
NP_003972.2:n.*787G>C
NM_001267580.2:c.*830G>C
NP_001254509.2:n.*830G>C
NM_199413.3:c.*787G>C
NP_955445.2:n.*787G>C