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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 allow 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.77943036T>C , CM000663.2:g.77943036T>C
GRCh38
NC_000001.10:g.78408721T>C , CM000663.1:g.78408721T>C
GRCh37
NC_000001.9:g.78181309T>C
NCBI36
NG_016625.1:g.59522T>C , LRG_442:g.59522T>C
NG_033243.2:g.41058A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334785.12:c.*207T>C
MANE Select
ENSP00000333938.7:n.*207T>C
ENST00000330010.12:c.*207T>C
ENSP00000327363.8:n.*207T>C
ENST00000334785.11:c.*207T>C
ENSP00000333938.7:n.*207T>C
ENST00000342754.5:c.1853T>C
ENST00000480732.2:n.1809T>C
NM_001172309.1:c.*207T>C
NP_001165780.1:n.*207T>C
NM_144573.3:c.*207T>C , LRG_442t1:c.*207T>C
NP_653174.3:n.*207T>C
XM_005271322.2:c.*123T>C
XP_005271379.1:n.*123T>C
XM_005271323.2:c.*123T>C
XP_005271380.1:n.*123T>C
XM_005271324.3:c.*123T>C
XP_005271381.1:n.*123T>C
XM_005271325.2:c.*123T>C
XP_005271382.1:n.*123T>C
XM_005271326.2:c.*123T>C
XP_005271383.1:n.*123T>C
XM_005271327.2:c.*123T>C
XP_005271384.1:n.*123T>C
XM_005271322.4:c.*123T>C
XP_005271379.1:n.*123T>C
XM_005271323.4:c.*123T>C
XP_005271380.1:n.*123T>C
XM_005271324.5:c.*123T>C
XP_005271381.1:n.*123T>C
XM_005271325.4:c.*123T>C
XP_005271382.1:n.*123T>C
XM_005271326.4:c.*123T>C
XP_005271383.1:n.*123T>C
XM_005271327.4:c.*123T>C
XP_005271384.1:n.*123T>C
NM_001172309.2:c.*207T>C
NP_001165780.1:n.*207T>C
NM_144573.4:c.*207T>C
MANE Select
NP_653174.3:n.*207T>C