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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_000008.11:g.132873123A>G , CM000670.2:g.132873123A>G
GRCh38
NC_000008.10:g.133885368A>G , CM000670.1:g.133885368A>G
GRCh37
NC_000008.9:g.133954550A>G
NCBI36
NG_015832.1:g.11164A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000220616.9:c.540A>G
MANE Select
ENSP00000220616.4:p.Pro180=
ENST00000220616.8:c.540A>G
ENSP00000220616.4:p.Pro180=
ENST00000523901.1:c.*391A>G
ENSP00000427871.1:n.*391A>G
NM_003235.4:c.540A>G
NP_003226.4:p.Pro180=
XM_005251038.3:c.540A>G
XP_005251095.1:p.Pro180=
XM_005251040.3:c.540A>G
XP_005251097.1:p.Pro180=
XM_005251042.3:c.540A>G
XP_005251099.1:p.Pro180=
XM_005251043.3:c.540A>G
XP_005251100.1:p.Pro180=
XM_006716622.2:c.540A>G
XP_006716685.1:p.Pro180=
XM_005251038.4:c.540A>G
XP_005251095.1:p.Pro180=
XM_005251040.4:c.540A>G
XP_005251097.1:p.Pro180=
XM_005251042.4:c.540A>G
XP_005251099.1:p.Pro180=
XM_006716622.3:c.540A>G
XP_006716685.1:p.Pro180=
XM_017013793.1:c.540A>G
XP_016869282.1:p.Pro180=
XM_017013794.1:c.540A>G
XP_016869283.1:p.Pro180=
XM_017013795.1:c.540A>G
XP_016869284.1:p.Pro180=
XM_017013796.1:c.540A>G
XP_016869285.1:p.Pro180=
XM_017013797.1:c.279A>G
XP_016869286.1:p.Pro93=
XM_017013798.1:c.540A>G
XP_016869287.1:p.Pro180=
XM_017013799.1:c.540A>G
XP_016869288.1:p.Pro180=
XM_017013800.1:c.540A>G
XP_016869289.1:p.Pro180=
NM_003235.5:c.540A>G
MANE Select
NP_003226.4:p.Pro180=