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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_000016.10:g.1510388T>C , CM000678.2:g.1510388T>C
GRCh38
NC_000016.9:g.1560389T>C , CM000678.1:g.1560389T>C
GRCh37
NC_000016.8:g.1500390T>C
NCBI36
NG_032783.1:g.106721A>G
NG_050910.1:g.22045T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262319.11:c.*452T>C
MANE Select
ENSP00000262319.6:n.*452T>C
ENST00000262319.10:c.*452T>C
ENSP00000262319.6:n.*452T>C
ENST00000568240.1:n.1258T>C
NM_016111.3:c.*452T>C
NP_057195.2:n.*452T>C
XM_011522773.1:c.*452T>C
XP_011521075.1:n.*452T>C
XM_011522774.1:c.*452T>C
XP_011521076.1:n.*452T>C
XM_011522775.1:c.*452T>C
XP_011521077.1:n.*452T>C
XM_011522776.1:c.*452T>C
XP_011521078.1:n.*452T>C
XR_932982.1:n.3265T>C
NM_001351846.1:c.*452T>C
NP_001338775.1:n.*452T>C
XM_011522773.3:c.*452T>C
XP_011521075.1:n.*452T>C
XM_011522774.2:c.*452T>C
XP_011521076.1:n.*452T>C
XM_011522775.3:c.*452T>C
XP_011521077.1:n.*452T>C
XM_011522776.2:c.*452T>C
XP_011521078.1:n.*452T>C
XR_001752042.2:n.3498T>C
XR_001752043.2:n.3013T>C
XR_001752044.2:n.2950T>C
XR_932982.3:n.3043T>C
NM_016111.4:c.*452T>C
MANE Select
NP_057195.2:n.*452T>C
NM_001351846.2:c.*452T>C
NP_001338775.1:n.*452T>C