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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.49684082G>A , CM000665.2:g.49684082G>A
GRCh38
NC_000003.11:g.49721515G>A , CM000665.1:g.49721515G>A
GRCh37
NC_000003.10:g.49696519G>A
NCBI36
NG_011438.1:g.15081G>A
NG_016454.1:g.9682C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000449682.3:c.2124C>T
MANE Select
ENSP00000414287.2:p.Phe708=
ENST00000448220.5:c.532C>T
ENST00000449682.2:c.2124C>T
ENSP00000414287.2:p.Phe708=
ENST00000479115.5:n.2179C>T
ENST00000488350.6:n.4046C>T
ENST00000492329.5:n.1900C>T
ENST00000493836.5:n.890C>T
NM_020998.3:c.2124C>T
NP_066278.3:p.Phe708=
XM_006713166.1:c.1989C>T
XP_006713229.1:p.Phe663=
XM_011533730.1:c.2259C>T
XP_011532032.1:p.Phe753=
XM_011533731.1:c.2166C>T
XP_011532033.1:p.Phe722=
XM_011533732.1:c.2160C>T
XP_011532034.1:p.Phe720=
XM_011533733.1:c.*44C>T
XP_011532035.1:n.*44C>T
XR_427270.2:n.3056C>T
XR_427271.1:n.3007C>T
XR_427273.1:n.2912C>T
XR_427274.2:n.2957C>T
XR_940425.1:n.3052C>T
XR_940426.1:n.3092C>T
XR_940427.1:n.2957C>T
NR_146060.1:n.2077C>T
XM_006713166.2:c.1989C>T
XP_006713229.1:p.Phe663=
XM_011533732.2:c.2160C>T
XP_011532034.1:p.Phe720=
XM_017006460.2:c.2103C>T
XP_016861949.1:p.Phe701=
XM_017006461.2:c.2067C>T
XP_016861950.1:p.Phe689=
XM_017006462.2:c.*44C>T
XP_016861951.1:n.*44C>T
XM_017006463.2:c.*44C>T
XP_016861952.1:n.*44C>T
XM_017006464.2:c.*44C>T
XP_016861953.1:n.*44C>T
XR_001740149.2:n.2224C>T
XR_001740150.2:n.2221C>T
XR_001740151.2:n.2264C>T
XR_001740152.2:n.2179C>T
XR_001740153.2:n.2225C>T
XR_002959536.1:n.2179C>T
XR_427273.2:n.2183C>T
XR_940427.2:n.2228C>T
NM_001393581.1:c.2160C>T
NP_001380510.1:p.Phe720=
NM_001393582.1:c.2067C>T
NP_001380511.1:p.Phe689=
NM_001393583.1:c.2034C>T
NP_001380512.1:p.Phe678=
NM_001393584.1:c.1989C>T
NP_001380513.1:p.Phe663=
NM_001393585.1:c.1824C>T
NP_001380514.1:p.Phe608=
NM_020998.4:c.2124C>T
MANE Select
NP_066278.3:p.Phe708=
NR_146060.2:n.2788C>T