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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_000002.12:g.25160979C>T , CM000664.2:g.25160979C>T
GRCh38
NC_000002.11:g.25383848C>T , CM000664.1:g.25383848C>T
GRCh37
NC_000002.10:g.25237352C>T
NCBI36
NG_008997.1:g.12712G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000395826.7:c.*102G>A
MANE Select
ENSP00000379170.2:n.*102G>A
ENST00000380794.5:c.*102G>A
ENSP00000370171.1:n.*102G>A
ENST00000405623.5:c.*102G>A
ENSP00000384092.1:n.*102G>A
NM_000939.2:c.*102G>A
NP_000930.1:n.*102G>A
NM_001035256.1:c.*102G>A
NP_001030333.1:n.*102G>A
XM_011532917.1:c.*102G>A
XP_011531219.1:n.*102G>A
NM_000939.3:c.*102G>A
NP_000930.1:n.*102G>A
NM_001035256.2:c.*102G>A
NP_001030333.1:n.*102G>A
NM_001319204.1:c.*102G>A
NP_001306133.1:n.*102G>A
NM_001319205.1:c.*102G>A
NP_001306134.1:n.*102G>A
NM_000939.4:c.*102G>A
MANE Select
NP_000930.1:n.*102G>A
NM_001319204.2:c.*102G>A
NP_001306133.1:n.*102G>A
NM_001319205.2:c.*102G>A
NP_001306134.1:n.*102G>A
NM_001035256.3:c.*102G>A
NP_001030333.1:n.*102G>A