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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_000003.12:g.49684085G>T , CM000665.2:g.49684085G>T
GRCh38
NC_000003.11:g.49721518G>T , CM000665.1:g.49721518G>T
GRCh37
NC_000003.10:g.49696522G>T
NCBI36
NG_011438.1:g.15084G>T
NG_016454.1:g.9679C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000449682.3:c.2121C>A
MANE Select
ENSP00000414287.2:p.Val707=
ENST00000448220.5:c.529C>A
ENST00000449682.2:c.2121C>A
ENSP00000414287.2:p.Val707=
ENST00000479115.5:n.2176C>A
ENST00000488350.6:n.4043C>A
ENST00000492329.5:n.1897C>A
ENST00000493836.5:n.887C>A
NM_020998.3:c.2121C>A
NP_066278.3:p.Val707=
XM_006713166.1:c.1986C>A
XP_006713229.1:p.Val662=
XM_011533730.1:c.2256C>A
XP_011532032.1:p.Val752=
XM_011533731.1:c.2163C>A
XP_011532033.1:p.Val721=
XM_011533732.1:c.2157C>A
XP_011532034.1:p.Val719=
XM_011533733.1:c.*41C>A
XP_011532035.1:n.*41C>A
XR_427270.2:n.3053C>A
XR_427271.1:n.3004C>A
XR_427273.1:n.2909C>A
XR_427274.2:n.2954C>A
XR_940425.1:n.3049C>A
XR_940426.1:n.3089C>A
XR_940427.1:n.2954C>A
NR_146060.1:n.2074C>A
XM_006713166.2:c.1986C>A
XP_006713229.1:p.Val662=
XM_011533732.2:c.2157C>A
XP_011532034.1:p.Val719=
XM_017006460.2:c.2100C>A
XP_016861949.1:p.Val700=
XM_017006461.2:c.2064C>A
XP_016861950.1:p.Val688=
XM_017006462.2:c.*41C>A
XP_016861951.1:n.*41C>A
XM_017006463.2:c.*41C>A
XP_016861952.1:n.*41C>A
XM_017006464.2:c.*41C>A
XP_016861953.1:n.*41C>A
XR_001740149.2:n.2221C>A
XR_001740150.2:n.2218C>A
XR_001740151.2:n.2261C>A
XR_001740152.2:n.2176C>A
XR_001740153.2:n.2222C>A
XR_002959536.1:n.2176C>A
XR_427273.2:n.2180C>A
XR_940427.2:n.2225C>A
NM_001393581.1:c.2157C>A
NP_001380510.1:p.Val719=
NM_001393582.1:c.2064C>A
NP_001380511.1:p.Val688=
NM_001393583.1:c.2031C>A
NP_001380512.1:p.Val677=
NM_001393584.1:c.1986C>A
NP_001380513.1:p.Val662=
NM_001393585.1:c.1821C>A
NP_001380514.1:p.Val607=
NM_020998.4:c.2121C>A
MANE Select
NP_066278.3:p.Val707=
NR_146060.2:n.2785C>A