×
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_000003.12:g.122254214G= , CM000665.2:g.122254214G=
GRCh38
NC_000003.11:g.121973061G= , CM000665.1:g.121973061G=
GRCh37
NC_000003.10:g.123455751G=
NCBI36
NG_009058.1:g.75532G=
NG_009058.2:g.75547G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000490131.7:c.25G=
ENSP00000418685.2:p.Val9=
ENST00000498619.4:c.25G=
ENSP00000420194.1:p.Val9=
ENST00000638421.1:c.25G=
ENSP00000492190.1:p.Val9=
ENST00000639785.2:c.25G=
MANE Select
ENSP00000491584.2:p.Val9=
ENST00000490131.5:c.25G=
ENSP00000418685.1:p.Val9=
ENST00000498619.2:c.25G=
ENSP00000420194.1:p.Val9=
NM_000388.3:c.25G=
NP_000379.2:p.Val9=
NM_001178065.1:c.25G=
NP_001171536.1:p.Val9=
XM_005247836.2:c.25G=
XP_005247893.1:p.Val9=
XM_006713789.2:c.25G=
XP_006713852.1:p.Val9=
XM_011513237.1:c.25G=
XP_011511539.1:p.Val9=
XM_011513238.1:c.25G=
XP_011511540.1:p.Val9=
XM_006713789.3:c.25G=
XP_006713852.1:p.Val9=
XM_017007324.1:c.25G=
XP_016862813.1:p.Val9=
XM_017007325.1:c.25G=
XP_016862814.1:p.Val9=
NM_000388.4:c.25G=
MANE Select
NP_000379.3:p.Val9=
NM_001178065.2:c.25G=
NP_001171536.2:p.Val9=