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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.24081500C= , CM000676.2:g.24081500C=
GRCh38
NC_000014.8:g.24550709C= , CM000676.1:g.24550709C=
GRCh37
NC_000014.7:g.23620549C=
NCBI36
NG_011697.1:g.8124G=
NG_011697.2:g.38515G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000561028.6:c.450G=
MANE Select
ENSP00000454062.2:p.Arg150=
ENST00000396995.1:c.33G=
ENSP00000380191.1:p.Arg11=
ENST00000396997.1:c.450G=
ENSP00000380193.1:p.Arg150=
ENST00000397002.6:c.450G=
ENSP00000380197.2:p.Arg150=
ENST00000560550.1:c.33G=
ENSP00000452966.1:p.Arg11=
ENST00000561028.5:c.450G=
ENSP00000454062.1:p.Arg150=
NM_006177.3:c.450G=
NP_006168.1:p.Arg150=
XM_005267708.3:c.450G=
XP_005267765.1:p.Arg150=
XM_005267709.3:c.450G=
XP_005267766.1:p.Arg150=
XM_005267710.3:c.450G=
XP_005267767.1:p.Arg150=
XM_011536801.1:c.549G=
XP_011535103.1:p.Arg183=
XM_011536802.1:c.450G=
XP_011535104.1:p.Arg150=
XM_011536803.1:c.450G=
XP_011535105.1:p.Arg150=
XM_011536804.1:c.450G=
XP_011535106.1:p.Arg150=
XM_011536805.1:c.450G=
XP_011535107.1:p.Arg150=
XM_011536806.1:c.234G=
XP_011535108.1:p.Arg78=
NM_001354768.1:c.450G=
NP_001341697.1:p.Arg150=
NM_001354769.1:c.450G=
NP_001341698.1:p.Arg150=
NM_001354770.1:c.135G=
NP_001341699.1:p.Arg45=
NM_006177.4:c.450G=
NP_006168.1:p.Arg150=
XM_011536801.2:c.756G=
XP_011535103.2:p.Arg252=
XM_011536804.2:c.450G=
XP_011535106.1:p.Arg150=
XM_011536805.2:c.450G=
XP_011535107.1:p.Arg150=
XM_011536806.2:c.441G=
XP_011535108.2:p.Arg147=
NM_001354768.3:c.450G=
MANE Select
NP_001341697.1:p.Arg150=
NM_001354770.2:c.135G=
NP_001341699.1:p.Arg45=
NM_006177.5:c.450G=
NP_006168.1:p.Arg150=