×
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_000004.12:g.186285644G>A , CM000666.2:g.186285644G>A
GRCh38
NC_000004.11:g.187206798G>A , CM000666.1:g.187206798G>A
GRCh37
NC_000004.10:g.187443792G>A
NCBI36
NG_008051.1:g.24681G>A , LRG_583:g.24681G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1311G>A
MANE Select
ENSP00000384957.2:p.Glu437=
ENST00000264691.4:c.7G>A
ENST00000264692.8:c.1149G>A
ENSP00000264692.5:p.Glu383=
ENST00000403665.6:c.1311G>A
ENSP00000384957.2:p.Glu437=
NM_000128.3:c.1311G>A , LRG_583t1:c.1311G>A
NP_000119.1:p.Glu437=
XM_005262821.2:c.1314G>A
XP_005262878.1:p.Glu438=
XM_005262822.2:c.1314G>A
XP_005262879.1:p.Glu438=
XM_005262823.2:c.1044G>A
XP_005262880.1:p.Glu348=
XM_005262824.1:c.1314G>A
XP_005262881.1:p.Glu438=
XM_006714137.1:c.1266G>A
XP_006714200.1:p.Glu422=
XR_938706.1:n.1719G>A
XR_938707.1:n.1719G>A
XM_005262821.4:c.1314G>A
XP_005262878.1:p.Glu438=
XM_005262822.4:c.1314G>A
XP_005262879.1:p.Glu438=
XM_005262823.4:c.1044G>A
XP_005262880.1:p.Glu348=
XM_006714137.3:c.1266G>A
XP_006714200.1:p.Glu422=
XR_001741172.2:n.1785G>A
NM_000128.4:c.1311G>A
MANE Select
NP_000119.1:p.Glu437=