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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_000016.10:g.27364361G>A , CM000678.2:g.27364361G>A
GRCh38
NC_000016.9:g.27375682G>A , CM000678.1:g.27375682G>A
GRCh37
NC_000016.8:g.27283183G>A
NCBI36
NG_012086.1:g.55432G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000395762.7:c.*531G>A
MANE Select
ENSP00000379111.2:n.*531G>A
ENST00000170630.6:c.2964G>A
ENSP00000170630.3:n.2964G>A
ENST00000395762.6:c.*531G>A
ENSP00000379111.2:n.*531G>A
ENST00000543915.6:c.*531G>A
ENSP00000441667.2:n.*531G>A
NM_000418.3:c.*531G>A
NP_000409.1:n.*531G>A
NM_001257406.1:c.*531G>A
NP_001244335.1:n.*531G>A
NM_001257407.1:c.*531G>A
NP_001244336.1:n.*531G>A
NM_001257997.1:c.*531G>A
NP_001244926.1:n.*531G>A
XM_005255308.2:c.*531G>A
XP_005255365.1:n.*531G>A
XM_006721043.1:c.*531G>A
XP_006721106.1:n.*531G>A
XM_011545825.1:c.*531G>A
XP_011544127.1:n.*531G>A
XM_011545826.1:c.*531G>A
XP_011544128.1:n.*531G>A
XM_011545827.1:c.*531G>A
XP_011544129.1:n.*531G>A
XM_011545828.1:c.*531G>A
XP_011544130.1:n.*531G>A
XM_011545829.1:c.*531G>A
XP_011544131.1:n.*531G>A
XM_011545830.1:c.*531G>A
XP_011544132.1:n.*531G>A
XM_011545831.1:c.*531G>A
XP_011544133.1:n.*531G>A
XM_011545832.1:c.*531G>A
XP_011544134.1:n.*531G>A
XM_011545833.1:c.*531G>A
XP_011544135.1:n.*531G>A
XM_011545834.1:c.*531G>A
XP_011544136.1:n.*531G>A
XM_011545826.2:c.*531G>A
XP_011544128.1:n.*531G>A
XM_011545827.2:c.*531G>A
XP_011544129.1:n.*531G>A
XM_011545828.2:c.*531G>A
XP_011544130.1:n.*531G>A
XM_011545830.2:c.*531G>A
XP_011544132.1:n.*531G>A
XM_011545833.2:c.*531G>A
XP_011544135.1:n.*531G>A
XM_011545834.2:c.*531G>A
XP_011544136.1:n.*531G>A
NM_000418.4:c.*531G>A
MANE Select
NP_000409.1:n.*531G>A
NM_001257406.2:c.*531G>A
NP_001244335.1:n.*531G>A
NM_001257407.2:c.*531G>A
NP_001244336.1:n.*531G>A
NM_001257997.2:c.*531G>A
NP_001244926.1:n.*531G>A