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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.57198142A= , CM000665.2:g.57198142A=
GRCh38
NC_000003.11:g.57232170A= , CM000665.1:g.57232170A=
GRCh37
NC_000003.10:g.57207210A=
NCBI36
NG_008242.1:g.7111T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295934.8:c.*55T=
MANE Select
ENSP00000295934.3:n.*55T=
ENST00000647958.1:c.*55T=
ENSP00000498190.1:n.*55T=
ENST00000295934.7:c.*55T=
ENSP00000295934.3:n.*55T=
ENST00000473921.2:c.*55T=
ENSP00000418918.1:n.*55T=
NM_003865.2:c.*55T=
NP_003856.1:n.*55T=
XM_005265526.3:c.*55T=
XP_005265583.1:n.*55T=
XM_006713379.2:c.*55T=
XP_006713442.1:n.*55T=
XM_011534204.1:c.*55T=
XP_011532506.1:n.*55T=
XM_011534205.1:c.*55T=
XP_011532507.1:n.*55T=
XM_005265526.4:c.*55T=
XP_005265583.1:n.*55T=
XM_011534204.2:c.*55T=
XP_011532506.1:n.*55T=
XM_011534205.2:c.*55T=
XP_011532507.1:n.*55T=
XM_017007421.1:c.*55T=
XP_016862910.1:n.*55T=
XM_024453809.1:c.*55T=
XP_024309577.1:n.*55T=
NM_003865.3:c.*55T=
MANE Select
NP_003856.1:n.*55T=
NM_001376058.1:c.*55T=
NP_001362987.1:n.*55T=
NM_001376059.1:c.*55T=
NP_001362988.1:n.*55T=
NM_001376060.1:c.*55T=
NP_001362989.1:n.*55T=
NM_001376061.1:c.*55T=
NP_001362990.1:n.*55T=
NR_164757.1:n.1106T=