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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_000007.14:g.43787967G= , CM000669.2:g.43787967G=
GRCh38
NC_000007.13:g.43827566G= , CM000669.1:g.43827566G=
GRCh37
NC_000007.12:g.43794091G=
NCBI36
NG_031876.1:g.34295G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265523.9:c.76G=
MANE Select
ENSP00000265523.4:p.Asp26=
ENST00000265523.8:c.76G=
ENSP00000265523.4:p.Asp26=
ENST00000402924.5:c.76G=
ENSP00000385757.1:p.Asp26=
ENST00000424330.1:c.76G=
ENSP00000412005.1:p.Asp26=
ENST00000453612.1:n.100G=
NM_000712.3:c.76G=
NP_000703.2:p.Asp26=
NM_001253823.1:c.76G=
NP_001240752.1:p.Asp26=
XM_011515474.1:c.76G=
XP_011513776.1:p.Asp26=
XR_428136.2:n.265-2209C=
XR_927212.1:n.265-2209C=
XR_927213.1:n.265-2209C=
XM_011515474.3:c.76G=
XP_011513776.1:p.Asp26=
XM_017012520.2:c.76G=
XP_016868009.1:p.Asp26=
XM_024446867.1:c.76G=
XP_024302635.1:p.Asp26=
XR_001745190.1:n.266-2209C=
NM_000712.4:c.76G=
MANE Select
NP_000703.2:p.Asp26=
NM_001253823.2:c.76G=
NP_001240752.1:p.Asp26=