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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_000017.11:g.8121760T>C , CM000679.2:g.8121760T>C
GRCh38
NC_000017.10:g.8025078T>C , CM000679.1:g.8025078T>C
GRCh37
NC_000017.9:g.7965803T>C
NCBI36
NG_015807.1:g.2157A>G
NG_015816.1:g.7333A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541682.7:c.504A>G
MANE Select
ENSP00000446205.2:p.Pro168=
ENST00000317814.8:c.489A>G
ENSP00000314774.4:p.Pro163=
ENST00000541682.6:c.504A>G
ENSP00000446205.2:p.Pro168=
NM_001165967.1:c.504A>G
NP_001159439.1:p.Pro168=
NM_032580.3:c.489A>G
NP_115969.2:p.Pro163=
XM_011524038.1:c.609A>G
XP_011522340.1:p.Pro203=
XM_011524039.1:c.600A>G
XP_011522341.1:p.Pro200=
XM_011524040.1:c.600A>G
XP_011522342.1:p.Pro200=
XM_011524041.1:c.591A>G
XP_011522343.1:p.Pro197=
XM_011524042.1:c.462A>G
XP_011522344.1:p.Pro154=
XR_934203.1:n.69+1946T>C
XM_017025232.1:c.609A>G
XP_016880721.1:p.Pro203=
XM_024451007.1:c.609A>G
XP_024306775.1:p.Pro203=
NM_001165967.2:c.504A>G
MANE Select
NP_001159439.1:p.Pro168=
NM_032580.4:c.489A>G
NP_115969.2:p.Pro163=