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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_000001.11:g.77942802T>C , CM000663.2:g.77942802T>C
GRCh38
NC_000001.10:g.78408487T>C , CM000663.1:g.78408487T>C
GRCh37
NC_000001.9:g.78181075T>C
NCBI36
NG_016625.1:g.59288T>C , LRG_442:g.59288T>C
NG_033243.2:g.41292A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334785.12:c.2001T>C
MANE Select
ENSP00000333938.7:p.Cys667=
ENST00000330010.12:c.1809T>C
ENSP00000327363.8:p.Cys603=
ENST00000334785.11:c.2001T>C
ENSP00000333938.7:p.Cys667=
ENST00000342754.5:c.1700T>C
ENST00000480732.2:n.1575T>C
NM_001172309.1:c.1809T>C
NP_001165780.1:p.Cys603=
NM_144573.3:c.2001T>C , LRG_442t1:c.2001T>C
NP_653174.3:p.Cys667=
XM_005271322.2:c.2001T>C
XP_005271379.1:p.Cys667=
XM_005271323.2:c.1959T>C
XP_005271380.1:p.Cys653=
XM_005271324.3:c.1809T>C
XP_005271381.1:p.Cys603=
XM_005271325.2:c.1779T>C
XP_005271382.1:p.Cys593=
XM_005271326.2:c.1767T>C
XP_005271383.1:p.Cys589=
XM_005271327.2:c.1584T>C
XP_005271384.1:p.Cys528=
XM_005271322.4:c.2001T>C
XP_005271379.1:p.Cys667=
XM_005271323.4:c.1959T>C
XP_005271380.1:p.Cys653=
XM_005271324.5:c.1809T>C
XP_005271381.1:p.Cys603=
XM_005271325.4:c.1779T>C
XP_005271382.1:p.Cys593=
XM_005271326.4:c.1767T>C
XP_005271383.1:p.Cys589=
XM_005271327.4:c.1584T>C
XP_005271384.1:p.Cys528=
NM_001172309.2:c.1809T>C
NP_001165780.1:p.Cys603=
NM_144573.4:c.2001T>C
MANE Select
NP_653174.3:p.Cys667=