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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.11259805C>A , CM000665.2:g.11259805C>A
GRCh38
NC_000003.11:g.11301491C>A , CM000665.1:g.11301491C>A
GRCh37
NC_000003.10:g.11276491C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000431010.3:c.768C>A
MANE Select
ENSP00000397028.2:p.Pro256=
ENST00000397056.1:c.768C>A
ENSP00000380247.1:p.Pro256=
ENST00000431010.2:c.768C>A
ENSP00000397028.2:p.Pro256=
ENST00000438284.2:c.768C>A
ENSP00000406705.2:p.Pro256=
NM_000861.3:c.768C>A
NP_000852.1:p.Pro256=
NM_001098211.1:c.768C>A
NP_001091681.1:p.Pro256=
NM_001098212.1:c.768C>A
NP_001091682.1:p.Pro256=
NM_001098213.1:c.768C>A
NP_001091683.1:p.Pro256=
XM_011533652.1:c.768C>A
XP_011531954.1:p.Pro256=
XM_011533653.1:c.768C>A
XP_011531955.1:p.Pro256=
XM_011533654.1:c.768C>A
XP_011531956.1:p.Pro256=
XM_011533655.1:c.768C>A
XP_011531957.1:p.Pro256=
XM_011533653.2:c.768C>A
XP_011531955.1:p.Pro256=
XM_017006283.1:c.768C>A
XP_016861772.1:p.Pro256=
XM_017006284.1:c.768C>A
XP_016861773.1:p.Pro256=
NM_001098211.2:c.768C>A
NP_001091681.1:p.Pro256=
NM_001098212.2:c.768C>A
MANE Select
NP_001091682.1:p.Pro256=
NM_001098213.2:c.768C>A
NP_001091683.1:p.Pro256=