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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_000002.12:g.102451945T= , CM000664.2:g.102451945T=
GRCh38
NC_000002.11:g.103068405T= , CM000664.1:g.103068405T=
GRCh37
NC_000002.10:g.102434837T=
NCBI36
NG_011481.1:g.38152T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000687160.1:c.1564T=
MANE Select
ENSP00000510345.1:p.Ser522=
ENST00000264260.6:c.1564T=
ENSP00000264260.2:p.Ser522=
ENST00000409369.1:c.1138T=
ENSP00000387201.1:p.Ser380=
NM_003853.3:c.1564T=
NP_003844.1:p.Ser522=
XM_011512087.1:c.1138T=
XP_011510389.1:p.Ser380=
XM_011512088.1:c.1138T=
XP_011510390.1:p.Ser380=
XM_011512087.2:c.1138T=
XP_011510389.1:p.Ser380=
XM_011512088.2:c.1138T=
XP_011510390.1:p.Ser380=
XM_017005173.1:c.706T=
XP_016860662.1:p.Ser236=
XM_024453197.1:c.1564T=
XP_024308965.1:p.Ser522=
XM_024453198.1:c.1564T=
XP_024308966.1:p.Ser522=
XM_024453199.1:c.1564T=
XP_024308967.1:p.Ser522=
XM_024453200.1:c.1564T=
XP_024308968.1:p.Ser522=
XM_024453201.1:c.1564T=
XP_024308969.1:p.Ser522=
NM_001393486.1:c.1564T=
NP_001380415.1:p.Ser522=
NM_001393487.1:c.1564T=
MANE Select
NP_001380416.1:p.Ser522=
NM_001393488.1:c.1138T=
NP_001380417.1:p.Ser380=
NM_001393489.1:c.1138T=
NP_001380418.1:p.Ser380=
NM_003853.4:c.1564T=
NP_003844.1:p.Ser522=