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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_000019.10:g.8580505G>C , CM000681.2:g.8580505G>C
GRCh38
NC_000019.9:g.8645389G>C , CM000681.1:g.8645389G>C
GRCh37
NC_000019.8:g.8551389G>C
NCBI36
NG_011840.2:g.35198C>G
NG_052844.1:g.1943C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000597188.6:c.*388C>G
MANE Select
ENSP00000471851.1:n.*388C>G
ENST00000270328.8:c.*388C>G
ENSP00000270328.4:n.*388C>G
ENST00000595838.5:c.*388C>G
ENSP00000470501.1:n.*388C>G
NM_001282352.1:c.*388C>G
NP_001269281.1:n.*388C>G
NM_030957.3:c.*388C>G
NP_112219.3:n.*388C>G
XM_006722917.2:c.*388C>G
XP_006722980.1:n.*388C>G
XM_011528331.1:c.*388C>G
XP_011526633.1:n.*388C>G
XM_011528332.1:c.*388C>G
XP_011526634.1:n.*388C>G
XM_011528333.1:c.*388C>G
XP_011526635.1:n.*388C>G
XM_011528334.1:c.*388C>G
XP_011526636.1:n.*388C>G
XM_011528335.1:c.*388C>G
XP_011526637.1:n.*388C>G
XM_011528336.1:c.*388C>G
XP_011526638.1:n.*388C>G
XM_006722917.3:c.*388C>G
XP_006722980.1:n.*388C>G
XM_017027339.1:c.*388C>G
XP_016882828.1:n.*388C>G
XM_017027340.1:c.*388C>G
XP_016882829.1:n.*388C>G
NM_030957.4:c.*388C>G
MANE Select
NP_112219.3:n.*388C>G
NM_001282352.2:c.*388C>G
NP_001269281.1:n.*388C>G