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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_000016.10:g.13948632T>C , CM000678.2:g.13948632T>C
GRCh38
NC_000016.9:g.14042489T>C , CM000678.1:g.14042489T>C
GRCh37
NC_000016.8:g.13949990T>C
NCBI36
NG_011442.1:g.33476T>C , LRG_463:g.33476T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682617.1:c.*285T>C
ENSP00000507912.1:n.*285T>C
ENST00000683962.1:c.*2730T>C
ENSP00000506854.1:n.*2730T>C
ENST00000311895.8:c.*285T>C
MANE Select
ENSP00000310520.7:n.*285T>C
ENST00000311895.7:c.*285T>C
ENSP00000310520.7:n.*285T>C
NM_005236.2:c.*285T>C , LRG_463t1:c.*285T>C
NP_005227.1:n.*285T>C
XM_011522424.1:c.*285T>C
XP_011520726.1:n.*285T>C
XM_011522425.1:c.*285T>C
XP_011520727.1:n.*285T>C
XM_011522426.1:c.*285T>C
XP_011520728.1:n.*285T>C
XM_011522427.1:c.*285T>C
XP_011520729.1:n.*285T>C
XR_932805.1:n.3074-81T>C
XM_011522424.3:c.*285T>C
XP_011520726.1:n.*285T>C
XM_017023043.2:c.*285T>C
XP_016878532.1:n.*285T>C
NM_005236.3:c.*285T>C
MANE Select
NP_005227.1:n.*285T>C