×
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.127426222T= , CM000664.2:g.127426222T=
GRCh38
NC_000002.11:g.128183798T= , CM000664.1:g.128183798T=
GRCh37
NC_000002.10:g.127900268T=
NCBI36
NG_016323.1:g.12803T= , LRG_599:g.12803T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.673T=
MANE Select
ENSP00000234071.4:p.Trp225=
ENST00000234071.7:c.673T=
ENSP00000234071.3:p.Trp225=
ENST00000402125.2:c.121-2135T=
ENST00000409048.1:c.775T=
ENSP00000386679.1:p.Trp259=
ENST00000464089.1:n.259T=
NM_000312.3:c.673T= , LRG_599t1:c.673T=
NP_000303.1:p.Trp225=
XM_005263715.3:c.856T=
XP_005263772.1:p.Trp286=
XM_005263716.3:c.838T=
XP_005263773.1:p.Trp280=
XM_005263717.3:c.736T=
XP_005263774.1:p.Trp246=
XM_005263717.4:c.736T=
XP_005263774.1:p.Trp246=
XM_017004505.1:c.916T=
XP_016859994.1:p.Trp306=
XM_024453002.1:c.1018T=
XP_024308770.1:p.Trp340=
XM_024453003.1:c.958T=
XP_024308771.1:p.Trp320=
XM_024453004.1:c.856T=
XP_024308772.1:p.Trp286=
XM_024453005.1:c.838T=
XP_024308773.1:p.Trp280=
XM_024453006.1:c.775T=
XP_024308774.1:p.Trp259=
XR_923313.2:n.4363A=
NM_000312.4:c.673T=
MANE Select
NP_000303.1:p.Trp225=
NM_001375602.1:c.856T=
NP_001362531.1:p.Trp286=
NM_001375603.1:c.838T=
NP_001362532.1:p.Trp280=
NM_001375604.1:c.736T=
NP_001362533.1:p.Trp246=
NM_001375605.1:c.775T=
NP_001362534.1:p.Trp259=
NM_001375606.1:c.841T=
NP_001362535.1:p.Trp281=
NM_001375607.1:c.859T=
NP_001362536.1:p.Trp287=
NM_001375608.1:c.616T=
NP_001362537.1:p.Trp206=
NM_001375609.1:c.649T=
NP_001362538.1:p.Trp217=
NM_001375610.1:c.667T=
NP_001362539.1:p.Trp223=
NM_001375611.1:c.673T=
NP_001362540.1:p.Trp225=
NM_001375613.1:c.673T=
NP_001362542.1:p.Trp225=