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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_000002.12:g.127428656C= , CM000664.2:g.127428656C=
GRCh38
NC_000002.11:g.128186232C= , CM000664.1:g.128186232C=
GRCh37
NC_000002.10:g.127902702C=
NCBI36
NG_016323.1:g.15237C= , LRG_599:g.15237C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.1096C=
MANE Select
ENSP00000234071.4:p.Pro366=
ENST00000234071.7:c.1096C=
ENSP00000234071.3:p.Pro366=
ENST00000402125.2:c.420C=
ENST00000409048.1:c.1198C=
ENSP00000386679.1:p.Pro400=
NM_000312.3:c.1096C= , LRG_599t1:c.1096C=
NP_000303.1:p.Pro366=
XM_005263715.3:c.1279C=
XP_005263772.1:p.Pro427=
XM_005263716.3:c.1261C=
XP_005263773.1:p.Pro421=
XM_005263717.3:c.1159C=
XP_005263774.1:p.Pro387=
XR_923313.1:n.1332-392G=
XM_005263717.4:c.1159C=
XP_005263774.1:p.Pro387=
XM_017004505.1:c.1339C=
XP_016859994.1:p.Pro447=
XM_024453002.1:c.1441C=
XP_024308770.1:p.Pro481=
XM_024453003.1:c.1381C=
XP_024308771.1:p.Pro461=
XM_024453004.1:c.1279C=
XP_024308772.1:p.Pro427=
XM_024453005.1:c.1261C=
XP_024308773.1:p.Pro421=
XM_024453006.1:c.1198C=
XP_024308774.1:p.Pro400=
XR_001739705.1:n.3607-392G=
XR_923313.2:n.4043-392G=
NM_000312.4:c.1096C=
MANE Select
NP_000303.1:p.Pro366=
NM_001375602.1:c.1279C=
NP_001362531.1:p.Pro427=
NM_001375603.1:c.1261C=
NP_001362532.1:p.Pro421=
NM_001375604.1:c.1159C=
NP_001362533.1:p.Pro387=
NM_001375605.1:c.1198C=
NP_001362534.1:p.Pro400=
NM_001375606.1:c.1264C=
NP_001362535.1:p.Pro422=
NM_001375607.1:c.1282C=
NP_001362536.1:p.Pro428=
NM_001375608.1:c.1039C=
NP_001362537.1:p.Pro347=
NM_001375609.1:c.1072C=
NP_001362538.1:p.Pro358=
NM_001375610.1:c.1090C=
NP_001362539.1:p.Pro364=
NM_001375611.1:c.1096C=
NP_001362540.1:p.Pro366=
NM_001375613.1:c.1096C=
NP_001362542.1:p.Pro366=