×
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_000001.11:g.154465203G= , CM000663.2:g.154465203G=
GRCh38
NC_000001.10:g.154437679G= , CM000663.1:g.154437679G=
GRCh37
NC_000001.9:g.152704303G=
NCBI36
NG_012087.1:g.65011G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368485.8:c.1230G=
MANE Select
ENSP00000357470.3:p.Leu410=
ENST00000344086.8:c.*38G=
ENSP00000340589.4:n.*38G=
ENST00000368485.7:c.1230G=
ENSP00000357470.3:p.Leu410=
ENST00000502679.1:n.543G=
ENST00000507256.1:n.428G=
NM_000565.3:c.1230G=
NP_000556.1:p.Leu410=
NM_181359.2:c.*38G=
NP_852004.1:n.*38G=
XM_005245139.1:c.994G=
XP_005245196.1:p.Gly332=
XM_005245140.1:c.*71G=
XP_005245197.1:n.*71G=
XM_006711298.1:c.1278G=
XP_006711361.1:p.Leu426=
XM_006711299.2:c.*38G=
XP_006711362.1:n.*38G=
XM_005245139.2:c.994G=
XP_005245196.1:p.Gly332=
XM_005245140.3:c.*71G=
XP_005245197.1:n.*71G=
XM_006711298.2:c.1278G=
XP_006711361.1:p.Leu426=
XM_006711299.4:c.*38G=
XP_006711362.1:n.*38G=
XM_017001199.2:c.1377G=
XP_016856688.1:p.Leu459=
XM_017001200.2:c.1329G=
XP_016856689.1:p.Leu443=
XM_017001201.2:c.*71G=
XP_016856690.1:n.*71G=
NM_000565.4:c.1230G=
MANE Select
NP_000556.1:p.Leu410=
NM_181359.3:c.*38G=
NP_852004.1:n.*38G=
NM_001382769.1:c.1329G=
NP_001369698.1:p.Leu443=
NM_001382770.1:c.1323G=
NP_001369699.1:p.Leu441=
NM_001382771.1:c.1278G=
NP_001369700.1:p.Leu426=
NM_001382772.1:c.1224G=
NP_001369701.1:p.Leu408=
NM_001382773.1:c.*38G=
NP_001369702.1:n.*38G=
NM_001382774.1:c.870G=
NP_001369703.1:p.Leu290=