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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_000003.12:g.111122167A>G , CM000665.2:g.111122167A>G
GRCh38
NC_000003.11:g.110841014A>G , CM000665.1:g.110841014A>G
GRCh37
NC_000003.10:g.112323704A>G
NCBI36
NG_029835.1:g.55409A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000485303.6:c.846A>G
MANE Select
ENSP00000418070.1:p.Val282=
ENST00000319792.7:c.846A>G
ENSP00000321514.3:p.Val282=
ENST00000485303.5:c.846A>G
ENSP00000418070.1:p.Val282=
ENST00000486596.5:c.547A>G
ENST00000493615.5:c.777A>G
ENSP00000420579.1:p.Val259=
NM_001243286.1:c.846A>G
NP_001230215.1:p.Val282=
NM_001243288.1:c.777A>G
NP_001230217.1:p.Val259=
NM_015480.2:c.846A>G
NP_056295.1:p.Val282=
XM_005247322.3:c.846A>G
XP_005247379.2:p.Val282=
XM_011512662.1:c.939A>G
XP_011510964.1:p.Val313=
XM_011512663.1:c.939A>G
XP_011510965.1:p.Val313=
XM_011512664.1:c.777A>G
XP_011510966.1:p.Val259=
XM_011512665.1:c.939A>G
XP_011510967.1:p.Val313=
XM_011512666.1:c.939A>G
XP_011510968.1:p.Val313=
XM_011512667.1:c.210A>G
XP_011510969.1:p.Val70=
XR_924122.1:n.1169A>G
XM_017006123.1:c.939A>G
XP_016861612.1:p.Val313=
XM_017006124.1:c.801A>G
XP_016861613.1:p.Val267=
XM_017006125.1:c.777A>G
XP_016861614.1:p.Val259=
XM_017006126.1:c.846A>G
XP_016861615.1:p.Val282=
XM_017006127.2:c.210A>G
XP_016861616.1:p.Val70=
XR_002959508.1:n.1127A>G
XR_924122.2:n.1169A>G
NM_015480.3:c.846A>G
MANE Select
NP_056295.1:p.Val282=
NM_001243286.2:c.846A>G
NP_001230215.1:p.Val282=
NM_001243288.2:c.777A>G
NP_001230217.1:p.Val259=