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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_000001.11:g.173917270C>T , CM000663.2:g.173917270C>T
GRCh38
NC_000001.10:g.173886408C>T , CM000663.1:g.173886408C>T
GRCh37
NC_000001.9:g.172153031C>T
NCBI36
NG_012462.1:g.5109G>A , LRG_577:g.5109G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.-11G>A
MANE Select
ENSP00000356671.3:n.-11G>A
ENST00000367698.3:c.-11G>A
ENSP00000356671.3:n.-11G>A
ENST00000494024.1:n.47G>A
ENST00000617423.4:c.-11G>A
ENSP00000478688.1:n.-11G>A
NM_000488.3:c.-11G>A , LRG_577t1:c.-11G>A
NP_000479.1:n.-11G>A
XM_005245198.2:c.-324G>A
XP_005245255.1:n.-324G>A
NM_001365052.1:c.-324G>A
NP_001351981.1:n.-324G>A
NM_000488.4:c.-11G>A
MANE Select
NP_000479.1:n.-11G>A
NM_001365052.2:c.-324G>A
NP_001351981.1:n.-324G>A
NM_001386302.1:c.-11G>A
NP_001373231.1:n.-11G>A
NM_001386303.1:c.-11G>A
NP_001373232.1:n.-11G>A
NM_001386304.1:c.-11G>A
NP_001373233.1:n.-11G>A
NM_001386305.1:c.-11G>A
NP_001373234.1:n.-11G>A
NM_001386306.1:c.-11G>A
NP_001373235.1:n.-11G>A