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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_000012.12:g.6534540A>C , CM000674.2:g.6534540A>C
GRCh38
NC_000012.11:g.6643706A>C , CM000674.1:g.6643706A>C
GRCh37
NC_000012.10:g.6513967A>C
NCBI36
NG_007073.2:g.5050A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000229239.10:c.-53A>C
MANE Select
ENSP00000229239.5:n.-53A>C
ENST00000229239.9:c.-53A>C
ENSP00000229239.5:n.-53A>C
ENST00000396856.5:c.-305A>C
ENSP00000380065.1:n.-305A>C
ENST00000396861.5:c.-145A>C
ENSP00000380070.1:n.-145A>C
ENST00000492719.5:n.8A>C
ENST00000496049.1:n.29A>C
NM_001289745.1:c.-145A>C
NP_001276674.1:n.-145A>C
NM_002046.5:c.-53A>C
NP_002037.2:n.-53A>C
NM_001289745.2:c.-145A>C
NP_001276674.1:n.-145A>C
NM_001357943.1:c.-53A>C
NP_001344872.1:n.-53A>C
NM_002046.6:c.-53A>C
NP_002037.2:n.-53A>C
NR_152150.1:n.24A>C
NM_002046.7:c.-53A>C
MANE Select
NP_002037.2:n.-53A>C
NM_001289745.3:c.-145A>C
NP_001276674.1:n.-145A>C
NM_001289746.2:c.-293A>C
NP_001276675.1:n.-293A>C
NM_001357943.2:c.-53A>C
NP_001344872.1:n.-53A>C
NR_152150.2:n.24A>C