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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.44915487C= , CM000679.2:g.44915487C=
GRCh38
NC_000017.10:g.42992855C= , CM000679.1:g.42992855C=
GRCh37
NC_000017.9:g.40348381C=
NCBI36
NG_008401.1:g.5060G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000253408.11:c.-1G=
ENSP00000253408.5:n.-1G=
ENST00000435360.8:c.-1G=
ENSP00000403962.1:n.-1G=
ENST00000253408.10:c.-1G=
ENSP00000253408.5:n.-1G=
ENST00000435360.7:c.-1G=
ENSP00000403962.1:n.-1G=
ENST00000586793.6:c.-1G=
ENSP00000468500.2:n.-1G=
ENST00000588735.3:c.-1G=
MANE Select
ENSP00000466598.2:n.-1G=
ENST00000591327.2:n.13G=
ENST00000592320.6:c.-1G=
ENSP00000465320.1:n.-1G=
ENST00000639277.1:c.-1G=
ENSP00000492432.1:n.-1G=
ENST00000640552.1:n.14G=
ENST00000253408.9:c.-1G=
ENSP00000253408.4:n.-1G=
ENST00000376990.8:c.-1G=
ENSP00000366189.4:n.-1G=
ENST00000435360.6:c.-1G=
ENSP00000403962.1:n.-1G=
ENST00000585728.5:c.-1G=
ENSP00000465208.1:n.-1G=
ENST00000586793.5:c.-1G=
ENSP00000468500.1:n.-1G=
ENST00000588037.1:c.-1G=
ENSP00000466163.1:n.-1G=
ENST00000588316.1:c.-1G=
ENSP00000465629.1:n.-1G=
ENST00000588735.1:c.-1G=
ENSP00000466598.1:n.-1G=
ENST00000588957.5:c.-272+330G=
ENSP00000465565.1:n.-272+330G=
ENST00000591327.1:n.14G=
ENST00000592320.5:c.-1G=
ENSP00000465320.1:n.-1G=
ENST00000593179.1:c.-1G=
ENSP00000467106.1:n.-1G=
NM_001131019.2:c.-1G=
NP_001124491.1:n.-1G=
NM_001242376.1:c.-1G=
NP_001229305.1:n.-1G=
NM_002055.4:c.-1G=
NP_002046.1:n.-1G=
NM_001363846.1:c.-1G=
NP_001350775.1:n.-1G=
XM_024450690.1:c.-1G=
XP_024306458.1:n.-1G=
XM_024450691.1:c.-1G=
XP_024306459.1:n.-1G=
XM_024450692.1:c.-1G=
XP_024306460.1:n.-1G=
XM_024450693.1:c.-1G=
XP_024306461.1:n.-1G=
NM_002055.5:c.-1G=
MANE Select
NP_002046.1:n.-1G=
NM_001131019.3:c.-1G=
NP_001124491.1:n.-1G=
NM_001242376.2:c.-1G=
NP_001229305.1:n.-1G=
NM_001242376.3:c.-1G=
NP_001229305.1:n.-1G=
NM_001363846.2:c.-1G=
NP_001350775.1:n.-1G=