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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.49684023T>G , CM000665.2:g.49684023T>G
GRCh38
NC_000003.11:g.49721456T>G , CM000665.1:g.49721456T>G
GRCh37
NC_000003.10:g.49696460T>G
NCBI36
NG_011438.1:g.15022T>G
NG_016454.1:g.9741A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000449682.3:c.*5A>C
MANE Select
ENSP00000414287.2:n.*5A>C
ENST00000448220.5:c.591A>C
ENST00000449682.2:c.*5A>C
ENSP00000414287.2:n.*5A>C
ENST00000479115.5:n.2238A>C
ENST00000488350.6:n.4105A>C
ENST00000492329.5:n.1959A>C
NM_020998.3:c.*5A>C
NP_066278.3:n.*5A>C
XM_006713166.1:c.*5A>C
XP_006713229.1:n.*5A>C
XM_011533730.1:c.*5A>C
XP_011532032.1:n.*5A>C
XM_011533731.1:c.*5A>C
XP_011532033.1:n.*5A>C
XM_011533732.1:c.*5A>C
XP_011532034.1:n.*5A>C
XM_011533733.1:c.*103A>C
XP_011532035.1:n.*103A>C
XR_427270.2:n.3115A>C
XR_427271.1:n.3066A>C
XR_427273.1:n.2971A>C
XR_427274.2:n.3016A>C
XR_940425.1:n.3111A>C
XR_940426.1:n.3151A>C
XR_940427.1:n.3016A>C
NR_146060.1:n.2136A>C
XM_006713166.2:c.*5A>C
XP_006713229.1:n.*5A>C
XM_011533732.2:c.*5A>C
XP_011532034.1:n.*5A>C
XM_017006460.2:c.*5A>C
XP_016861949.1:n.*5A>C
XM_017006461.2:c.*5A>C
XP_016861950.1:n.*5A>C
XM_017006462.2:c.*103A>C
XP_016861951.1:n.*103A>C
XM_017006463.2:c.*103A>C
XP_016861952.1:n.*103A>C
XM_017006464.2:c.*103A>C
XP_016861953.1:n.*103A>C
XR_001740149.2:n.2283A>C
XR_001740150.2:n.2280A>C
XR_001740151.2:n.2323A>C
XR_001740152.2:n.2238A>C
XR_001740153.2:n.2284A>C
XR_002959536.1:n.2238A>C
XR_427273.2:n.2242A>C
XR_940427.2:n.2287A>C
NM_001393581.1:c.*5A>C
NP_001380510.1:n.*5A>C
NM_001393582.1:c.*5A>C
NP_001380511.1:n.*5A>C
NM_001393583.1:c.*5A>C
NP_001380512.1:n.*5A>C
NM_001393584.1:c.*5A>C
NP_001380513.1:n.*5A>C
NM_001393585.1:c.*5A>C
NP_001380514.1:n.*5A>C
NM_020998.4:c.*5A>C
MANE Select
NP_066278.3:n.*5A>C
NR_146060.2:n.2847A>C