×
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_000002.12:g.127428683G= , CM000664.2:g.127428683G=
GRCh38
NC_000002.11:g.128186259G= , CM000664.1:g.128186259G=
GRCh37
NC_000002.10:g.127902729G=
NCBI36
NG_016323.1:g.15264G= , LRG_599:g.15264G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.1123G=
MANE Select
ENSP00000234071.4:p.Glu375=
ENST00000234071.7:c.1123G=
ENSP00000234071.3:p.Glu375=
ENST00000402125.2:c.447G=
ENST00000409048.1:c.1225G=
ENSP00000386679.1:p.Glu409=
NM_000312.3:c.1123G= , LRG_599t1:c.1123G=
NP_000303.1:p.Glu375=
XM_005263715.3:c.1306G=
XP_005263772.1:p.Glu436=
XM_005263716.3:c.1288G=
XP_005263773.1:p.Glu430=
XM_005263717.3:c.1186G=
XP_005263774.1:p.Glu396=
XR_923313.1:n.1332-419C=
XM_005263717.4:c.1186G=
XP_005263774.1:p.Glu396=
XM_017004505.1:c.1366G=
XP_016859994.1:p.Glu456=
XM_024453002.1:c.1468G=
XP_024308770.1:p.Glu490=
XM_024453003.1:c.1408G=
XP_024308771.1:p.Glu470=
XM_024453004.1:c.1306G=
XP_024308772.1:p.Glu436=
XM_024453005.1:c.1288G=
XP_024308773.1:p.Glu430=
XM_024453006.1:c.1225G=
XP_024308774.1:p.Glu409=
XR_001739705.1:n.3607-419C=
XR_923313.2:n.4043-419C=
NM_000312.4:c.1123G=
MANE Select
NP_000303.1:p.Glu375=
NM_001375602.1:c.1306G=
NP_001362531.1:p.Glu436=
NM_001375603.1:c.1288G=
NP_001362532.1:p.Glu430=
NM_001375604.1:c.1186G=
NP_001362533.1:p.Glu396=
NM_001375605.1:c.1225G=
NP_001362534.1:p.Glu409=
NM_001375606.1:c.1291G=
NP_001362535.1:p.Glu431=
NM_001375607.1:c.1309G=
NP_001362536.1:p.Glu437=
NM_001375608.1:c.1066G=
NP_001362537.1:p.Glu356=
NM_001375609.1:c.1099G=
NP_001362538.1:p.Glu367=
NM_001375610.1:c.1117G=
NP_001362539.1:p.Glu373=
NM_001375611.1:c.1123G=
NP_001362540.1:p.Glu375=
NM_001375613.1:c.1123G=
NP_001362542.1:p.Glu375=