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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.137139163G>T , CM000671.2:g.137139163G>T
GRCh38
NC_000009.11:g.140033615G>T , CM000671.1:g.140033615G>T
GRCh37
NC_000009.10:g.139153436G>T
NCBI36
NG_011507.1:g.5007G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371553.8:c.-324G>T
ENSP00000360608.3:n.-324G>T
ENST00000371560.5:c.-324G>T
ENSP00000360615.3:n.-324G>T
ENST00000371561.8:c.-324G>T
MANE Select
ENSP00000360616.3:n.-324G>T
ENST00000371561.7:c.-324G>T
ENSP00000360616.3:n.-324G>T
NM_000832.6:c.-324G>T
NP_000823.4:n.-324G>T
NM_001185090.1:c.-324G>T
NP_001172019.1:n.-324G>T
NM_001185091.1:c.-324G>T
NP_001172020.1:n.-324G>T
NM_007327.3:c.-324G>T
NP_015566.1:n.-324G>T
NM_021569.3:c.-324G>T
NP_067544.1:n.-324G>T
XM_005266071.2:c.-324G>T
XP_005266128.1:n.-324G>T
XM_005266072.2:c.-324G>T
XP_005266129.1:n.-324G>T
XM_005266073.3:c.-324G>T
XP_005266130.1:n.-324G>T
XM_011518583.1:c.-324G>T
XP_011516885.1:n.-324G>T
XM_005266072.3:c.-324G>T
XP_005266129.1:n.-324G>T
XM_005266073.4:c.-324G>T
XP_005266130.1:n.-324G>T
XM_011518583.2:c.-324G>T
XP_011516885.1:n.-324G>T
NM_007327.4:c.-324G>T
MANE Select
NP_015566.1:n.-324G>T
NM_000832.7:c.-324G>T
NP_000823.4:n.-324G>T
NM_001185090.2:c.-324G>T
NP_001172019.1:n.-324G>T
NM_001185091.2:c.-324G>T
NP_001172020.1:n.-324G>T
NM_021569.4:c.-324G>T
NP_067544.1:n.-324G>T