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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_000010.11:g.102504151C= , CM000672.2:g.102504151C=
GRCh38
NC_000010.10:g.104263908C= , CM000672.1:g.104263908C=
GRCh37
NC_000010.9:g.104253898C=
NCBI36
NG_011901.1:g.3605G=
NG_021338.1:g.5190C= , LRG_521:g.5190C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369902.8:c.-2C=
MANE Select
ENSP00000358918.4:n.-2C=
ENST00000369899.6:c.-2C=
ENSP00000358915.2:n.-2C=
ENST00000369902.7:c.-2C=
ENSP00000358918.3:n.-2C=
ENST00000423559.2:c.-2C=
ENSP00000411597.2:n.-2C=
NM_001178133.1:c.-2C=
NP_001171604.1:n.-2C=
NM_016169.3:c.-2C= , LRG_521t1:c.-2C=
NP_057253.2:n.-2C=
XM_011539858.1:c.-2C=
XP_011538160.1:n.-2C=
XM_011539859.1:c.-2C=
XP_011538161.1:n.-2C=
XM_011539860.1:c.-2C=
XP_011538162.1:n.-2C=
XM_011539861.1:c.-2C=
XP_011538163.1:n.-2C=
XM_011539863.1:c.8+1165C=
XP_011538165.1:n.8+1165C=
XM_011539864.1:c.-2C=
XP_011538166.1:n.-2C=
XM_011539858.3:c.-2C=
XP_011538160.1:n.-2C=
XM_011539860.3:c.-2C=
XP_011538162.1:n.-2C=
XM_011539861.3:c.-2C=
XP_011538163.1:n.-2C=
XM_011539863.3:c.8+1165C=
XP_011538165.1:n.8+1165C=
XM_011539864.3:c.-2C=
XP_011538166.1:n.-2C=
NM_001178133.2:c.-2C=
NP_001171604.1:n.-2C=
NM_016169.4:c.-2C=
MANE Select
NP_057253.2:n.-2C=