×
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.25234272A= , CM000664.2:g.25234272A=
GRCh38
NC_000002.11:g.25457141A= , CM000664.1:g.25457141A=
GRCh37
NC_000002.10:g.25310645A=
NCBI36
NG_029465.2:g.113319T= , LRG_459:g.113319T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000683393.1:c.1892T=
ENSP00000508654.1:n.1892T=
ENST00000683760.1:c.*7T=
ENSP00000507765.1:n.*7T=
ENST00000321117.10:c.*7T=
MANE Select
ENSP00000324375.5:n.*7T=
ENST00000264709.7:c.*7T=
ENSP00000264709.3:n.*7T=
ENST00000321117.9:c.*7T=
ENSP00000324375.5:n.*7T=
ENST00000380746.8:c.*7T=
ENSP00000370122.4:n.*7T=
ENST00000380756.7:c.*599T=
ENSP00000370132.3:n.*599T=
ENST00000402667.1:c.*7T=
ENSP00000384237.1:n.*7T=
NM_022552.4:c.*7T= , LRG_459t1:c.*7T=
NP_072046.2:n.*7T=
NM_153759.3:c.*7T= , LRG_459t2:c.*7T=
NP_715640.2:n.*7T=
NM_175629.2:c.*7T= , LRG_459t4:c.*7T=
NP_783328.1:n.*7T=
XM_005264175.3:c.*7T=
XP_005264232.1:n.*7T=
XM_005264177.3:c.*7T=
XP_005264234.1:n.*7T=
XM_006711958.2:c.*7T=
XP_006712021.1:n.*7T=
XM_011532662.1:c.*7T=
XP_011530964.1:n.*7T=
XM_011532663.1:c.*7T=
XP_011530965.1:n.*7T=
XM_011532665.1:c.*7T=
XP_011530967.1:n.*7T=
XM_011532666.1:c.*7T=
XP_011530968.1:n.*7T=
XM_011532667.1:c.*7T=
XP_011530969.1:n.*7T=
NM_001320893.1:c.*7T=
NP_001307822.1:n.*7T=
NR_135490.1:n.3283T=
XM_005264175.5:c.*7T=
XP_005264232.1:n.*7T=
XM_005264177.4:c.*7T=
XP_005264234.1:n.*7T=
XM_011532662.2:c.*7T=
XP_011530964.1:n.*7T=
XM_011532663.2:c.*7T=
XP_011530965.1:n.*7T=
XM_011532666.2:c.*7T=
XP_011530968.1:n.*7T=
XM_011532667.3:c.*7T=
XP_011530969.1:n.*7T=
XM_017003526.1:c.*7T=
XP_016859015.1:n.*7T=
XM_017003527.1:c.*7T=
XP_016859016.1:n.*7T=
XR_001738657.1:n.2953T=
NM_001375819.1:c.*7T=
NP_001362748.1:n.*7T=
NR_135490.2:n.3176T=
NM_022552.5:c.*7T=
MANE Select
NP_072046.2:n.*7T=