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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_000023.11:g.130065930A>G , CM000685.2:g.130065930A>G
GRCh38
NC_000023.10:g.129199905A>G , CM000685.1:g.129199905A>G
GRCh37
NC_000023.9:g.129027586A>G
NCBI36
NG_016388.1:g.49784T>C , LRG_335:g.49784T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000308167.10:c.*791T>C
MANE Select
ENSP00000311280.6:n.*791T>C
ENST00000308167.9:c.*791T>C
ENSP00000311280.5:n.*791T>C
ENST00000335997.11:c.*791T>C
ENSP00000338608.7:n.*791T>C
ENST00000615377.4:c.*791T>C
ENSP00000478297.1:n.*791T>C
NM_001127197.1:c.*791T>C
NP_001120669.1:n.*791T>C
NM_001421.3:c.*791T>C , LRG_335t1:c.*791T>C
NP_001412.1:n.*791T>C
XM_005262389.2:c.*791T>C
XP_005262446.1:n.*791T>C
XM_011531307.1:c.*791T>C
XP_011529609.1:n.*791T>C
XM_011531308.1:c.*791T>C
XP_011529610.1:n.*791T>C
XM_005262389.3:c.*791T>C
XP_005262446.1:n.*791T>C
XM_011531307.3:c.*791T>C
XP_011529609.1:n.*791T>C
XM_011531308.3:c.*791T>C
XP_011529610.1:n.*791T>C
NM_001127197.2:c.*791T>C
NP_001120669.1:n.*791T>C
NM_001421.4:c.*791T>C
MANE Select
NP_001412.1:n.*791T>C