×
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.154465728C>T , CM000663.2:g.154465728C>T
GRCh38
NC_000001.10:g.154438204C>T , CM000663.1:g.154438204C>T
GRCh37
NC_000001.9:g.152704828C>T
NCBI36
NG_012087.1:g.65536C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368485.8:c.*348C>T
MANE Select
ENSP00000357470.3:n.*348C>T
ENST00000344086.8:c.*563C>T
ENSP00000340589.4:n.*563C>T
ENST00000368485.7:c.*348C>T
ENSP00000357470.3:n.*348C>T
NM_000565.3:c.*348C>T
NP_000556.1:n.*348C>T
NM_181359.2:c.*563C>T
NP_852004.1:n.*563C>T
XM_005245139.1:c.*436C>T
XP_005245196.1:n.*436C>T
XM_005245140.1:c.*596C>T
XP_005245197.1:n.*596C>T
XM_006711298.1:c.*348C>T
XP_006711361.1:n.*348C>T
XM_005245139.2:c.*436C>T
XP_005245196.1:n.*436C>T
XM_005245140.3:c.*596C>T
XP_005245197.1:n.*596C>T
XM_006711298.2:c.*348C>T
XP_006711361.1:n.*348C>T
XM_017001199.2:c.*348C>T
XP_016856688.1:n.*348C>T
XM_017001200.2:c.*348C>T
XP_016856689.1:n.*348C>T
XM_017001201.2:c.*596C>T
XP_016856690.1:n.*596C>T
NM_000565.4:c.*348C>T
MANE Select
NP_000556.1:n.*348C>T
NM_181359.3:c.*563C>T
NP_852004.1:n.*563C>T
NM_001382769.1:c.*348C>T
NP_001369698.1:n.*348C>T
NM_001382770.1:c.*348C>T
NP_001369699.1:n.*348C>T
NM_001382771.1:c.*348C>T
NP_001369700.1:n.*348C>T
NM_001382772.1:c.*348C>T
NP_001369701.1:n.*348C>T
NM_001382773.1:c.*563C>T
NP_001369702.1:n.*563C>T
NM_001382774.1:c.*348C>T
NP_001369703.1:n.*348C>T