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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_000017.11:g.58692579A>C , CM000679.2:g.58692579A>C
GRCh38
NC_000017.10:g.56769940A>C , CM000679.1:g.56769940A>C
GRCh37
NC_000017.9:g.54124939A>C
NCBI36
NG_023199.1:g.4978A>C , LRG_314:g.4978A>C
NG_047169.1:g.4501T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000461271.6:c.-313A>C
ENSP00000464056.2:n.-313A>C
ENST00000697675.1:n.7A>C
ENST00000697683.1:c.-65A>C
ENSP00000513395.1:n.-65A>C
ENST00000337432.8:c.-65A>C
ENSP00000336701.4:n.-65A>C
ENST00000461271.5:c.-313A>C
ENSP00000464056.1:n.-313A>C
ENST00000487921.5:n.4A>C
ENST00000583539.5:c.-65A>C
ENSP00000463121.1:n.-65A>C
NM_002876.3:c.-65A>C
NP_002867.1:n.-65A>C
NM_058216.2:c.-65A>C
NP_478123.1:n.-65A>C
NR_103872.1:n.7A>C
NR_103873.1:n.7A>C
XM_006722001.2:c.-65A>C
XP_006722064.1:n.-65A>C
XM_006722002.2:c.-65A>C
XP_006722065.1:n.-65A>C
XM_006722004.2:c.-313A>C
XP_006722067.1:n.-313A>C
XM_006722005.2:c.-260A>C
XP_006722068.1:n.-260A>C
XR_934513.1:n.9A>C
XR_934514.1:n.9A>C
XM_006722001.4:c.-65A>C
XP_006722064.1:n.-65A>C
XM_006722002.4:c.-65A>C
XP_006722065.1:n.-65A>C
XM_006722004.3:c.-313A>C
XP_006722067.1:n.-313A>C
XM_006722005.3:c.-260A>C
XP_006722068.1:n.-260A>C
XM_017024914.1:c.-313A>C
XP_016880403.1:n.-313A>C
XM_017024917.1:c.-260A>C
XP_016880406.1:n.-260A>C
XR_934513.3:n.440A>C
XR_934514.3:n.440A>C