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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.49683990T>G , CM000665.2:g.49683990T>G
GRCh38
NC_000003.11:g.49721423T>G , CM000665.1:g.49721423T>G
GRCh37
NC_000003.10:g.49696427T>G
NCBI36
NG_011438.1:g.14989T>G
NG_016454.1:g.9774A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000449682.3:c.*38A>C
MANE Select
ENSP00000414287.2:n.*38A>C
ENST00000448220.5:c.624A>C
ENST00000449682.2:c.*38A>C
ENSP00000414287.2:n.*38A>C
ENST00000479115.5:n.2271A>C
ENST00000488350.6:n.4138A>C
ENST00000492329.5:n.1992A>C
NM_020998.3:c.*38A>C
NP_066278.3:n.*38A>C
XM_006713166.1:c.*38A>C
XP_006713229.1:n.*38A>C
XM_011533730.1:c.*38A>C
XP_011532032.1:n.*38A>C
XM_011533731.1:c.*38A>C
XP_011532033.1:n.*38A>C
XM_011533732.1:c.*38A>C
XP_011532034.1:n.*38A>C
XM_011533733.1:c.*136A>C
XP_011532035.1:n.*136A>C
XR_427270.2:n.3148A>C
XR_427271.1:n.3099A>C
XR_427273.1:n.3004A>C
XR_427274.2:n.3049A>C
XR_940425.1:n.3144A>C
XR_940426.1:n.3184A>C
XR_940427.1:n.3049A>C
NR_146060.1:n.2169A>C
XM_006713166.2:c.*38A>C
XP_006713229.1:n.*38A>C
XM_011533732.2:c.*38A>C
XP_011532034.1:n.*38A>C
XM_017006460.2:c.*38A>C
XP_016861949.1:n.*38A>C
XM_017006461.2:c.*38A>C
XP_016861950.1:n.*38A>C
XM_017006462.2:c.*136A>C
XP_016861951.1:n.*136A>C
XM_017006463.2:c.*136A>C
XP_016861952.1:n.*136A>C
XM_017006464.2:c.*136A>C
XP_016861953.1:n.*136A>C
XR_001740149.2:n.2316A>C
XR_001740150.2:n.2313A>C
XR_001740151.2:n.2356A>C
XR_001740152.2:n.2271A>C
XR_001740153.2:n.2317A>C
XR_002959536.1:n.2271A>C
XR_427273.2:n.2275A>C
XR_940427.2:n.2320A>C
NM_001393581.1:c.*38A>C
NP_001380510.1:n.*38A>C
NM_001393582.1:c.*38A>C
NP_001380511.1:n.*38A>C
NM_001393583.1:c.*38A>C
NP_001380512.1:n.*38A>C
NM_001393584.1:c.*38A>C
NP_001380513.1:n.*38A>C
NM_001393585.1:c.*38A>C
NP_001380514.1:n.*38A>C
NM_020998.4:c.*38A>C
MANE Select
NP_066278.3:n.*38A>C
NR_146060.2:n.2880A>C