×
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.28111642T>C , CM000677.2:g.28111642T>C
GRCh38
NC_000015.9:g.28356788T>C , CM000677.1:g.28356788T>C
GRCh37
NC_000015.8:g.26030383T>C
NCBI36
NG_016355.1:g.215508A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261609.13:c.*121A>G
MANE Select
ENSP00000261609.8:n.*121A>G
ENST00000650509.1:c.6105A>G
ENSP00000496936.1:n.6105A>G
ENST00000261609.11:c.*121A>G
ENSP00000261609.7:n.*121A>G
ENST00000566635.5:n.1751A>G
NM_004667.5:c.*121A>G
NP_004658.3:n.*121A>G
XM_005268276.3:c.*121A>G
XP_005268333.1:n.*121A>G
XM_005268277.3:c.*121A>G
XP_005268334.1:n.*121A>G
XM_006720726.2:c.*121A>G
XP_006720789.1:n.*121A>G
XM_006720727.2:c.*121A>G
XP_006720790.1:n.*121A>G
XM_011522131.1:c.*121A>G
XP_011520433.1:n.*121A>G
XM_011522132.1:c.*121A>G
XP_011520434.1:n.*121A>G
XM_011522133.1:c.*121A>G
XP_011520435.1:n.*121A>G
XM_011522134.1:c.*121A>G
XP_011520436.1:n.*121A>G
XM_005268276.5:c.*121A>G
XP_005268333.1:n.*121A>G
XM_006720726.3:c.*121A>G
XP_006720789.1:n.*121A>G
XM_006720727.3:c.*121A>G
XP_006720790.1:n.*121A>G
XM_017022695.1:c.*121A>G
XP_016878184.1:n.*121A>G
XM_017022696.1:c.*121A>G
XP_016878185.1:n.*121A>G
XM_017022697.1:c.*121A>G
XP_016878186.1:n.*121A>G
XM_017022698.1:c.*121A>G
XP_016878187.1:n.*121A>G
NM_004667.6:c.*121A>G
MANE Select
NP_004658.3:n.*121A>G