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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.8580677T>A , CM000681.2:g.8580677T>A
GRCh38
NC_000019.9:g.8645561T>A , CM000681.1:g.8645561T>A
GRCh37
NC_000019.8:g.8551561T>A
NCBI36
NG_011840.2:g.35026A>T
NG_052844.1:g.1771A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000597188.6:c.*216A>T
MANE Select
ENSP00000471851.1:n.*216A>T
ENST00000270328.8:c.*216A>T
ENSP00000270328.4:n.*216A>T
ENST00000595838.5:c.*216A>T
ENSP00000470501.1:n.*216A>T
NM_001282352.1:c.*216A>T
NP_001269281.1:n.*216A>T
NM_030957.3:c.*216A>T
NP_112219.3:n.*216A>T
XM_006722917.2:c.*216A>T
XP_006722980.1:n.*216A>T
XM_011528331.1:c.*216A>T
XP_011526633.1:n.*216A>T
XM_011528332.1:c.*216A>T
XP_011526634.1:n.*216A>T
XM_011528333.1:c.*216A>T
XP_011526635.1:n.*216A>T
XM_011528334.1:c.*216A>T
XP_011526636.1:n.*216A>T
XM_011528335.1:c.*216A>T
XP_011526637.1:n.*216A>T
XM_011528336.1:c.*216A>T
XP_011526638.1:n.*216A>T
XM_006722917.3:c.*216A>T
XP_006722980.1:n.*216A>T
XM_017027339.1:c.*216A>T
XP_016882828.1:n.*216A>T
XM_017027340.1:c.*216A>T
XP_016882829.1:n.*216A>T
NM_030957.4:c.*216A>T
MANE Select
NP_112219.3:n.*216A>T
NM_001282352.2:c.*216A>T
NP_001269281.1:n.*216A>T