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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_000024.10:g.12918780G>T , CM000686.2:g.12918780G>T
GRCh38
NC_000024.9:g.15030692G>T , CM000686.1:g.15030692G>T
GRCh37
NC_000024.8:g.13540086G>T
NCBI36
NG_012831.1:g.19674G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000336079.8:c.*658G>T
MANE Select
ENSP00000336725.3:n.*658G>T
ENST00000336079.7:c.*658G>T
ENSP00000336725.3:n.*658G>T
NM_004660.4:c.*658G>T
NP_004651.2:n.*658G>T
XM_006724878.1:c.*658G>T
XP_006724941.1:n.*658G>T
NM_001122665.3:c.*658G>T
NP_001116137.1:n.*658G>T
NM_001302552.2:c.*658G>T
NP_001289481.1:n.*658G>T
NM_001324195.1:c.*658G>T
NP_001311124.1:n.*658G>T
NR_136716.1:n.3110G>T
NR_136717.1:n.2872G>T
NR_136718.1:n.3190G>T
NR_136719.1:n.2980G>T
NR_136720.1:n.3041G>T
NR_136721.1:n.2703G>T
NR_136722.1:n.2787G>T
NR_136723.1:n.3105G>T
NR_136724.1:n.3025G>T
XR_001756014.2:n.2805G>T
NM_004660.5:c.*658G>T
MANE Select
NP_004651.2:n.*658G>T
NM_001302552.3:c.*658G>T
NP_001289481.1:n.*658G>T
NM_001324195.2:c.*658G>T
NP_001311124.1:n.*658G>T
NR_136716.2:n.3028G>T
NR_136717.2:n.2790G>T
NR_136718.2:n.3108G>T
NR_136719.2:n.2898G>T
NR_136720.2:n.2959G>T
NR_136721.2:n.2693G>T