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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.49684079C= , CM000665.2:g.49684079C=
GRCh38
NC_000003.11:g.49721512C= , CM000665.1:g.49721512C=
GRCh37
NC_000003.10:g.49696516C=
NCBI36
NG_011438.1:g.15078C=
NG_016454.1:g.9685G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000449682.3:c.2127G=
MANE Select
ENSP00000414287.2:p.Thr709=
ENST00000448220.5:c.535G=
ENST00000449682.2:c.2127G=
ENSP00000414287.2:p.Thr709=
ENST00000479115.5:n.2182G=
ENST00000488350.6:n.4049G=
ENST00000492329.5:n.1903G=
ENST00000493836.5:n.893G=
NM_020998.3:c.2127G=
NP_066278.3:p.Thr709=
XM_006713166.1:c.1992G=
XP_006713229.1:p.Thr664=
XM_011533730.1:c.2262G=
XP_011532032.1:p.Thr754=
XM_011533731.1:c.2169G=
XP_011532033.1:p.Thr723=
XM_011533732.1:c.2163G=
XP_011532034.1:p.Thr721=
XM_011533733.1:c.*47G=
XP_011532035.1:n.*47G=
XR_427270.2:n.3059G=
XR_427271.1:n.3010G=
XR_427273.1:n.2915G=
XR_427274.2:n.2960G=
XR_940425.1:n.3055G=
XR_940426.1:n.3095G=
XR_940427.1:n.2960G=
NR_146060.1:n.2080G=
XM_006713166.2:c.1992G=
XP_006713229.1:p.Thr664=
XM_011533732.2:c.2163G=
XP_011532034.1:p.Thr721=
XM_017006460.2:c.2106G=
XP_016861949.1:p.Thr702=
XM_017006461.2:c.2070G=
XP_016861950.1:p.Thr690=
XM_017006462.2:c.*47G=
XP_016861951.1:n.*47G=
XM_017006463.2:c.*47G=
XP_016861952.1:n.*47G=
XM_017006464.2:c.*47G=
XP_016861953.1:n.*47G=
XR_001740149.2:n.2227G=
XR_001740150.2:n.2224G=
XR_001740151.2:n.2267G=
XR_001740152.2:n.2182G=
XR_001740153.2:n.2228G=
XR_002959536.1:n.2182G=
XR_427273.2:n.2186G=
XR_940427.2:n.2231G=
NM_001393581.1:c.2163G=
NP_001380510.1:p.Thr721=
NM_001393582.1:c.2070G=
NP_001380511.1:p.Thr690=
NM_001393583.1:c.2037G=
NP_001380512.1:p.Thr679=
NM_001393584.1:c.1992G=
NP_001380513.1:p.Thr664=
NM_001393585.1:c.1827G=
NP_001380514.1:p.Thr609=
NM_020998.4:c.2127G=
MANE Select
NP_066278.3:p.Thr709=
NR_146060.2:n.2791G=