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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_000011.10:g.72224984C>A , CM000673.2:g.72224984C>A
GRCh38
NC_000011.9:g.71936028C>A , CM000673.1:g.71936028C>A
GRCh37
NC_000011.8:g.71613676C>A
NCBI36
NG_023253.1:g.5147C>A
NG_023253.2:g.5147C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000298229.7:c.-1C>A
MANE Select
ENSP00000298229.2:n.-1C>A
ENST00000298229.6:c.-1C>A
ENSP00000298229.2:n.-1C>A
ENST00000540973.1:c.-1C>A
ENSP00000440904.1:n.-1C>A
ENST00000543234.1:c.-1C>A
ENSP00000440512.1:n.-1C>A
NM_001567.3:c.-1C>A
NP_001558.3:n.-1C>A
XM_005273978.3:c.-1C>A
XP_005274035.1:n.-1C>A
XM_005273979.3:c.-1C>A
XP_005274036.1:n.-1C>A
XM_011544999.1:c.-1C>A
XP_011543301.1:n.-1C>A
XM_011545000.1:c.-1C>A
XP_011543302.1:n.-1C>A
XM_005273979.4:c.-1C>A
XP_005274036.1:n.-1C>A
XM_011544999.2:c.-1C>A
XP_011543301.1:n.-1C>A
XM_024448501.1:c.-1C>A
XP_024304269.1:n.-1C>A
XM_024448502.1:c.-1C>A
XP_024304270.1:n.-1C>A
XM_024448503.1:c.-122C>A
XP_024304271.1:n.-122C>A
XM_024448504.1:c.-1C>A
XP_024304272.1:n.-1C>A
XM_024448505.1:c.-1C>A
XP_024304273.1:n.-1C>A
NM_001567.4:c.-1C>A
MANE Select
NP_001558.3:n.-1C>A