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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.95606063G>A , CM000672.2:g.95606063G>A
GRCh38
NC_000010.10:g.97365820G>A , CM000672.1:g.97365820G>A
GRCh37
NC_000010.9:g.97355810G>A
NCBI36
NG_012258.1:g.55748C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371224.7:c.*699C>T
MANE Select
ENSP00000360268.2:n.*699C>T
ENST00000371221.3:c.*699C>T
ENSP00000360265.3:n.*699C>T
ENST00000371224.6:c.*699C>T
ENSP00000360268.2:n.*699C>T
NM_001017423.1:c.*699C>T
NP_001017423.1:n.*699C>T
NM_002860.3:c.*699C>T
NP_002851.2:n.*699C>T
XM_006717933.1:c.*699C>T
XP_006717996.1:n.*699C>T
XM_011540001.1:c.*699C>T
XP_011538303.1:n.*699C>T
NM_001323412.1:c.*699C>T
NP_001310341.1:n.*699C>T
NM_001323413.1:c.*699C>T
NP_001310342.1:n.*699C>T
NM_001323414.1:c.*699C>T
NP_001310343.1:n.*699C>T
NM_001323415.1:c.*699C>T
NP_001310344.1:n.*699C>T
NM_001323416.1:c.*699C>T
NP_001310345.1:n.*699C>T
NM_001323417.1:c.*699C>T
NP_001310346.1:n.*699C>T
NM_001323418.1:c.*699C>T
NP_001310347.1:n.*699C>T
NM_001323419.1:c.*699C>T
NP_001310348.1:n.*699C>T
XM_024448094.1:c.*699C>T
XP_024303862.1:n.*699C>T
XM_024448095.1:c.*699C>T
XP_024303863.1:n.*699C>T
XM_024448096.1:c.*699C>T
XP_024303864.1:n.*699C>T
XM_024448097.1:c.*699C>T
XP_024303865.1:n.*699C>T
NM_002860.4:c.*699C>T
MANE Select
NP_002851.2:n.*699C>T
NM_001017423.2:c.*699C>T
NP_001017423.1:n.*699C>T
NM_001323412.2:c.*699C>T
NP_001310341.1:n.*699C>T
NM_001323413.2:c.*699C>T
NP_001310342.1:n.*699C>T
NM_001323414.2:c.*699C>T
NP_001310343.1:n.*699C>T
NM_001323415.2:c.*699C>T
NP_001310344.1:n.*699C>T
NM_001323416.2:c.*699C>T
NP_001310345.1:n.*699C>T
NM_001323417.2:c.*699C>T
NP_001310346.1:n.*699C>T
NM_001323418.2:c.*699C>T
NP_001310347.1:n.*699C>T
NM_001323419.2:c.*699C>T
NP_001310348.1:n.*699C>T