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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114504989G>T , CM000671.2:g.114504989G>T
GRCh38
NC_000009.11:g.117267269G>T , CM000671.1:g.117267269G>T
GRCh37
NC_000009.10:g.116307090G>T
NCBI36
NG_016700.1:g.5468C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362057.4:c.-188C>A
MANE Select
ENSP00000354623.3:n.-188C>A
ENST00000673697.1:c.-188C>A
ENSP00000501152.1:n.-188C>A
ENST00000374057.3:c.-188C>A
ENSP00000363170.3:n.-188C>A
NM_001173425.1:c.-188C>A
NP_001166896.1:n.-188C>A
NM_015404.3:c.-188C>A
NP_056219.3:n.-188C>A
XM_005251897.3:c.-188C>A
XP_005251954.2:n.-188C>A
XM_011518484.1:c.-188C>A
XP_011516786.1:n.-188C>A
XM_011518485.1:c.-188C>A
XP_011516787.1:n.-188C>A
XM_011518486.1:c.-188C>A
XP_011516788.1:n.-188C>A
XM_011518487.1:c.-188C>A
XP_011516789.1:n.-188C>A
XM_011518488.1:c.-188C>A
XP_011516790.1:n.-188C>A
XM_011518489.1:c.-188C>A
XP_011516791.1:n.-188C>A
XM_011518490.1:c.-188C>A
XP_011516792.1:n.-188C>A
XM_011518491.1:c.-188C>A
XP_011516793.1:n.-188C>A
XM_011518492.1:c.-188C>A
XP_011516794.1:n.-188C>A
XM_011518493.1:c.-188C>A
XP_011516795.1:n.-188C>A
XM_011518494.1:c.-188C>A
XP_011516796.1:n.-188C>A
XR_929747.1:n.521C>A
XR_929748.1:n.521C>A
XR_929749.1:n.521C>A
XR_929750.1:n.521C>A
XR_929751.1:n.521C>A
XR_929752.1:n.521C>A
XR_929753.1:n.521C>A
XR_929754.1:n.521C>A
XR_929755.1:n.521C>A
XR_929756.1:n.521C>A
XR_929757.1:n.521C>A
NM_015404.4:c.-188C>A
MANE Select
NP_056219.3:n.-188C>A
NM_001173425.2:c.-188C>A
NP_001166896.1:n.-188C>A