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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_000002.12:g.24919160C= , CM000664.2:g.24919160C=
GRCh38
NC_000002.11:g.25142029C= , CM000664.1:g.25142029C=
GRCh37
NC_000002.10:g.24995533C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000679454.1:c.-173G=
MANE Select
ENSP00000505261.1:n.-173G=
ENST00000260600.9:c.-173G=
ENSP00000260600.5:n.-173G=
ENST00000405392.5:c.-173G=
ENSP00000384484.2:n.-173G=
ENST00000435135.5:c.-173G=
ENSP00000389799.1:n.-173G=
ENST00000438445.1:c.-173G=
ENSP00000406153.1:n.-173G=
NM_004036.3:c.-173G=
NP_004027.2:n.-173G=
XM_005264104.1:c.-173G=
XP_005264161.1:n.-173G=
XM_005264105.1:c.-173G=
XP_005264162.1:n.-173G=
XM_006711925.1:c.-173G=
XP_006711988.1:n.-173G=
XM_011532489.1:c.-173G=
XP_011530791.1:n.-173G=
XM_011532490.1:c.-173G=
XP_011530792.1:n.-173G=
XM_011532491.1:c.-173G=
XP_011530793.1:n.-173G=
XM_011532492.1:c.-173G=
XP_011530794.1:n.-173G=
XM_011532493.1:c.-173G=
XP_011530795.1:n.-173G=
XM_011532494.1:c.-173G=
XP_011530796.1:n.-173G=
NM_001320613.1:c.-173G=
NP_001307542.1:n.-173G=
NM_004036.4:c.-173G=
NP_004027.2:n.-173G=
XM_011532492.2:c.-173G=
XP_011530794.1:n.-173G=
XM_017003186.1:c.-173G=
XP_016858675.1:n.-173G=
XM_017003187.1:c.-173G=
XP_016858676.1:n.-173G=
XM_017003188.1:c.-173G=
XP_016858677.1:n.-173G=
XM_017003189.1:c.-173G=
XP_016858678.1:n.-173G=
XM_017003190.1:c.-173G=
XP_016858679.1:n.-173G=
NM_001320613.2:c.-173G=
NP_001307542.1:n.-173G=
NM_001377128.1:c.-173G=
NP_001364057.1:n.-173G=
NM_001377129.1:c.-173G=
NP_001364058.1:n.-173G=
NM_001377130.1:c.-173G=
NP_001364059.1:n.-173G=
NM_001377132.1:c.-173G=
NP_001364061.1:n.-173G=
NM_004036.5:c.-173G=
MANE Select
NP_004027.2:n.-173G=