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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.77942967T>C , CM000663.2:g.77942967T>C
GRCh38
NC_000001.10:g.78408652T>C , CM000663.1:g.78408652T>C
GRCh37
NC_000001.9:g.78181240T>C
NCBI36
NG_016625.1:g.59453T>C , LRG_442:g.59453T>C
NG_033243.2:g.41127A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334785.12:c.*138T>C
MANE Select
ENSP00000333938.7:n.*138T>C
ENST00000330010.12:c.*138T>C
ENSP00000327363.8:n.*138T>C
ENST00000334785.11:c.*138T>C
ENSP00000333938.7:n.*138T>C
ENST00000342754.5:c.1784T>C
ENST00000480732.2:n.1740T>C
NM_001172309.1:c.*138T>C
NP_001165780.1:n.*138T>C
NM_144573.3:c.*138T>C , LRG_442t1:c.*138T>C
NP_653174.3:n.*138T>C
XM_005271322.2:c.*54T>C
XP_005271379.1:n.*54T>C
XM_005271323.2:c.*54T>C
XP_005271380.1:n.*54T>C
XM_005271324.3:c.*54T>C
XP_005271381.1:n.*54T>C
XM_005271325.2:c.*54T>C
XP_005271382.1:n.*54T>C
XM_005271326.2:c.*54T>C
XP_005271383.1:n.*54T>C
XM_005271327.2:c.*54T>C
XP_005271384.1:n.*54T>C
XM_005271322.4:c.*54T>C
XP_005271379.1:n.*54T>C
XM_005271323.4:c.*54T>C
XP_005271380.1:n.*54T>C
XM_005271324.5:c.*54T>C
XP_005271381.1:n.*54T>C
XM_005271325.4:c.*54T>C
XP_005271382.1:n.*54T>C
XM_005271326.4:c.*54T>C
XP_005271383.1:n.*54T>C
XM_005271327.4:c.*54T>C
XP_005271384.1:n.*54T>C
NM_001172309.2:c.*138T>C
NP_001165780.1:n.*138T>C
NM_144573.4:c.*138T>C
MANE Select
NP_653174.3:n.*138T>C