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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_000011.10:g.108222846G>A , CM000673.2:g.108222846G>A
GRCh38
NC_000011.9:g.108093573G>A , CM000673.1:g.108093573G>A
GRCh37
NC_000011.8:g.107598783G>A
NCBI36
NG_009830.1:g.5015G>A , LRG_135:g.5015G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000452508.7:c.-459G>A
ENSP00000388058.2:n.-459G>A
ENST00000683914.2:c.-371G>A
ENSP00000507649.1:n.-371G>A
ENST00000278616.8:c.-371G>A
ENSP00000278616.4:n.-371G>A
ENST00000527805.5:c.-371G>A
ENSP00000435747.1:n.-371G>A
NM_000051.3:c.-371G>A , LRG_135t1:c.-371G>A
NP_000042.3:n.-371G>A
XM_011542843.1:c.-371G>A
XP_011541145.1:n.-371G>A
XM_011542846.1:c.-371G>A
XP_011541148.1:n.-371G>A
NM_001351834.1:c.-459G>A
NP_001338763.1:n.-459G>A
NM_001351835.1:c.-371G>A
NP_001338764.1:n.-371G>A
XM_011542842.3:c.-371G>A
XP_011541144.1:n.-371G>A
XM_011542843.2:c.-371G>A
XP_011541145.1:n.-371G>A
XM_017017791.1:c.-371G>A
XP_016873280.1:n.-371G>A
XM_017017792.2:c.-371G>A
XP_016873281.1:n.-371G>A
XR_002957150.1:n.363G>A