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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_000015.10:g.28111644C>A , CM000677.2:g.28111644C>A
GRCh38
NC_000015.9:g.28356790C>A , CM000677.1:g.28356790C>A
GRCh37
NC_000015.8:g.26030385C>A
NCBI36
NG_016355.1:g.215506G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261609.13:c.*119G>T
MANE Select
ENSP00000261609.8:n.*119G>T
ENST00000650509.1:c.6103G>T
ENSP00000496936.1:n.6103G>T
ENST00000261609.11:c.*119G>T
ENSP00000261609.7:n.*119G>T
ENST00000566635.5:n.1749G>T
NM_004667.5:c.*119G>T
NP_004658.3:n.*119G>T
XM_005268276.3:c.*119G>T
XP_005268333.1:n.*119G>T
XM_005268277.3:c.*119G>T
XP_005268334.1:n.*119G>T
XM_006720726.2:c.*119G>T
XP_006720789.1:n.*119G>T
XM_006720727.2:c.*119G>T
XP_006720790.1:n.*119G>T
XM_011522131.1:c.*119G>T
XP_011520433.1:n.*119G>T
XM_011522132.1:c.*119G>T
XP_011520434.1:n.*119G>T
XM_011522133.1:c.*119G>T
XP_011520435.1:n.*119G>T
XM_011522134.1:c.*119G>T
XP_011520436.1:n.*119G>T
XM_005268276.5:c.*119G>T
XP_005268333.1:n.*119G>T
XM_006720726.3:c.*119G>T
XP_006720789.1:n.*119G>T
XM_006720727.3:c.*119G>T
XP_006720790.1:n.*119G>T
XM_017022695.1:c.*119G>T
XP_016878184.1:n.*119G>T
XM_017022696.1:c.*119G>T
XP_016878185.1:n.*119G>T
XM_017022697.1:c.*119G>T
XP_016878186.1:n.*119G>T
XM_017022698.1:c.*119G>T
XP_016878187.1:n.*119G>T
NM_004667.6:c.*119G>T
MANE Select
NP_004658.3:n.*119G>T