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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.49683992T>C , CM000665.2:g.49683992T>C
GRCh38
NC_000003.11:g.49721425T>C , CM000665.1:g.49721425T>C
GRCh37
NC_000003.10:g.49696429T>C
NCBI36
NG_011438.1:g.14991T>C
NG_016454.1:g.9772A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000449682.3:c.*36A>G
MANE Select
ENSP00000414287.2:n.*36A>G
ENST00000448220.5:c.622A>G
ENST00000449682.2:c.*36A>G
ENSP00000414287.2:n.*36A>G
ENST00000479115.5:n.2269A>G
ENST00000488350.6:n.4136A>G
ENST00000492329.5:n.1990A>G
NM_020998.3:c.*36A>G
NP_066278.3:n.*36A>G
XM_006713166.1:c.*36A>G
XP_006713229.1:n.*36A>G
XM_011533730.1:c.*36A>G
XP_011532032.1:n.*36A>G
XM_011533731.1:c.*36A>G
XP_011532033.1:n.*36A>G
XM_011533732.1:c.*36A>G
XP_011532034.1:n.*36A>G
XM_011533733.1:c.*134A>G
XP_011532035.1:n.*134A>G
XR_427270.2:n.3146A>G
XR_427271.1:n.3097A>G
XR_427273.1:n.3002A>G
XR_427274.2:n.3047A>G
XR_940425.1:n.3142A>G
XR_940426.1:n.3182A>G
XR_940427.1:n.3047A>G
NR_146060.1:n.2167A>G
XM_006713166.2:c.*36A>G
XP_006713229.1:n.*36A>G
XM_011533732.2:c.*36A>G
XP_011532034.1:n.*36A>G
XM_017006460.2:c.*36A>G
XP_016861949.1:n.*36A>G
XM_017006461.2:c.*36A>G
XP_016861950.1:n.*36A>G
XM_017006462.2:c.*134A>G
XP_016861951.1:n.*134A>G
XM_017006463.2:c.*134A>G
XP_016861952.1:n.*134A>G
XM_017006464.2:c.*134A>G
XP_016861953.1:n.*134A>G
XR_001740149.2:n.2314A>G
XR_001740150.2:n.2311A>G
XR_001740151.2:n.2354A>G
XR_001740152.2:n.2269A>G
XR_001740153.2:n.2315A>G
XR_002959536.1:n.2269A>G
XR_427273.2:n.2273A>G
XR_940427.2:n.2318A>G
NM_001393581.1:c.*36A>G
NP_001380510.1:n.*36A>G
NM_001393582.1:c.*36A>G
NP_001380511.1:n.*36A>G
NM_001393583.1:c.*36A>G
NP_001380512.1:n.*36A>G
NM_001393584.1:c.*36A>G
NP_001380513.1:n.*36A>G
NM_001393585.1:c.*36A>G
NP_001380514.1:n.*36A>G
NM_020998.4:c.*36A>G
MANE Select
NP_066278.3:n.*36A>G
NR_146060.2:n.2878A>G