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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.8580695A>G , CM000681.2:g.8580695A>G
GRCh38
NC_000019.9:g.8645579A>G , CM000681.1:g.8645579A>G
GRCh37
NC_000019.8:g.8551579A>G
NCBI36
NG_011840.2:g.35008T>C
NG_052844.1:g.1753T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000597188.6:c.*198T>C
MANE Select
ENSP00000471851.1:n.*198T>C
ENST00000270328.8:c.*198T>C
ENSP00000270328.4:n.*198T>C
ENST00000593913.5:c.*2387T>C
ENSP00000469901.1:n.*2387T>C
ENST00000595838.5:c.*198T>C
ENSP00000470501.1:n.*198T>C
NM_001282352.1:c.*198T>C
NP_001269281.1:n.*198T>C
NM_030957.3:c.*198T>C
NP_112219.3:n.*198T>C
XM_006722917.2:c.*198T>C
XP_006722980.1:n.*198T>C
XM_011528331.1:c.*198T>C
XP_011526633.1:n.*198T>C
XM_011528332.1:c.*198T>C
XP_011526634.1:n.*198T>C
XM_011528333.1:c.*198T>C
XP_011526635.1:n.*198T>C
XM_011528334.1:c.*198T>C
XP_011526636.1:n.*198T>C
XM_011528335.1:c.*198T>C
XP_011526637.1:n.*198T>C
XM_011528336.1:c.*198T>C
XP_011526638.1:n.*198T>C
XM_006722917.3:c.*198T>C
XP_006722980.1:n.*198T>C
XM_017027339.1:c.*198T>C
XP_016882828.1:n.*198T>C
XM_017027340.1:c.*198T>C
XP_016882829.1:n.*198T>C
NM_030957.4:c.*198T>C
MANE Select
NP_112219.3:n.*198T>C
NM_001282352.2:c.*198T>C
NP_001269281.1:n.*198T>C