×
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.49684076A>C , CM000665.2:g.49684076A>C
GRCh38
NC_000003.11:g.49721509A>C , CM000665.1:g.49721509A>C
GRCh37
NC_000003.10:g.49696513A>C
NCBI36
NG_011438.1:g.15075A>C
NG_016454.1:g.9688T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000449682.3:c.2130T>G
MANE Select
ENSP00000414287.2:p.Arg710=
ENST00000448220.5:c.538T>G
ENST00000449682.2:c.2130T>G
ENSP00000414287.2:p.Arg710=
ENST00000479115.5:n.2185T>G
ENST00000488350.6:n.4052T>G
ENST00000492329.5:n.1906T>G
ENST00000493836.5:n.896T>G
NM_020998.3:c.2130T>G
NP_066278.3:p.Arg710=
XM_006713166.1:c.1995T>G
XP_006713229.1:p.Arg665=
XM_011533730.1:c.2265T>G
XP_011532032.1:p.Arg755=
XM_011533731.1:c.2172T>G
XP_011532033.1:p.Arg724=
XM_011533732.1:c.2166T>G
XP_011532034.1:p.Arg722=
XM_011533733.1:c.*50T>G
XP_011532035.1:n.*50T>G
XR_427270.2:n.3062T>G
XR_427271.1:n.3013T>G
XR_427273.1:n.2918T>G
XR_427274.2:n.2963T>G
XR_940425.1:n.3058T>G
XR_940426.1:n.3098T>G
XR_940427.1:n.2963T>G
NR_146060.1:n.2083T>G
XM_006713166.2:c.1995T>G
XP_006713229.1:p.Arg665=
XM_011533732.2:c.2166T>G
XP_011532034.1:p.Arg722=
XM_017006460.2:c.2109T>G
XP_016861949.1:p.Arg703=
XM_017006461.2:c.2073T>G
XP_016861950.1:p.Arg691=
XM_017006462.2:c.*50T>G
XP_016861951.1:n.*50T>G
XM_017006463.2:c.*50T>G
XP_016861952.1:n.*50T>G
XM_017006464.2:c.*50T>G
XP_016861953.1:n.*50T>G
XR_001740149.2:n.2230T>G
XR_001740150.2:n.2227T>G
XR_001740151.2:n.2270T>G
XR_001740152.2:n.2185T>G
XR_001740153.2:n.2231T>G
XR_002959536.1:n.2185T>G
XR_427273.2:n.2189T>G
XR_940427.2:n.2234T>G
NM_001393581.1:c.2166T>G
NP_001380510.1:p.Arg722=
NM_001393582.1:c.2073T>G
NP_001380511.1:p.Arg691=
NM_001393583.1:c.2040T>G
NP_001380512.1:p.Arg680=
NM_001393584.1:c.1995T>G
NP_001380513.1:p.Arg665=
NM_001393585.1:c.1830T>G
NP_001380514.1:p.Arg610=
NM_020998.4:c.2130T>G
MANE Select
NP_066278.3:p.Arg710=
NR_146060.2:n.2794T>G