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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.154192099G>A , CM000663.2:g.154192099G>A
GRCh38
NC_000001.10:g.154164575G>A , CM000663.1:g.154164575G>A
GRCh37
NC_000001.9:g.152431199G>A
NCBI36
NG_008621.1:g.5035C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651641.1:c.-81C>T
MANE Select
ENSP00000498577.1:n.-81C>T
ENST00000651644.1:c.-81C>T
ENSP00000498648.1:n.-81C>T
ENST00000368530.6:c.-81C>T
ENSP00000357516.2:n.-81C>T
ENST00000515609.1:c.-49-32C>T
ENSP00000426306.1:n.-49-32C>T
NM_152263.3:c.-81C>T
NP_689476.2:n.-81C>T
XM_006711515.1:c.-81C>T
XP_006711578.1:n.-81C>T
XM_006711517.1:c.-81C>T
XP_006711580.1:n.-81C>T
XM_006711518.1:c.-81C>T
XP_006711581.1:n.-81C>T
XM_006711519.1:c.-81C>T
XP_006711582.1:n.-81C>T
XM_006711520.1:c.-81C>T
XP_006711583.1:n.-81C>T
XM_006711521.1:c.-81C>T
XP_006711584.1:n.-81C>T
XM_011509950.1:c.-81C>T
XP_011508252.1:n.-81C>T
XM_011509951.1:c.-81C>T
XP_011508253.1:n.-81C>T
NM_001364679.1:c.-81C>T
NP_001351608.1:n.-81C>T
NM_001364680.1:c.-81C>T
NP_001351609.1:n.-81C>T
NM_001364681.1:c.-81C>T
NP_001351610.1:n.-81C>T
NM_001364682.1:c.-81C>T
NP_001351611.1:n.-81C>T
NM_152263.4:c.-81C>T
MANE Select
NP_689476.2:n.-81C>T
NM_001364679.2:c.-81C>T
NP_001351608.1:n.-81C>T
NM_001364680.2:c.-81C>T
NP_001351609.1:n.-81C>T
NM_001364681.2:c.-81C>T
NP_001351610.1:n.-81C>T
NR_103460.2:n.2C>T