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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_000017.11:g.4710633C>T , CM000679.2:g.4710633C>T
GRCh38
NC_000017.10:g.4613928C>T , CM000679.1:g.4613928C>T
GRCh37
NC_000017.9:g.4560677C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269260.7:c.-89C>T
MANE Select
ENSP00000269260.2:n.-89C>T
ENST00000269260.6:c.-89C>T
ENSP00000269260.2:n.-89C>T
ENST00000570718.5:n.2C>T
ENST00000570739.5:n.2C>T
ENST00000574502.5:c.-89C>T
ENSP00000458371.1:n.-89C>T
ENST00000574954.5:c.-634C>T
ENSP00000466344.1:n.-634C>T
NM_001257328.1:c.-89C>T
NP_001244257.1:n.-89C>T
NM_001257329.1:c.-89C>T
NP_001244258.1:n.-89C>T
NM_001257330.1:c.-89C>T
NP_001244259.1:n.-89C>T
NM_001257331.1:c.-89C>T
NP_001244260.1:n.-89C>T
NM_004313.3:c.-89C>T
NP_004304.1:n.-89C>T
NM_199004.1:c.-89C>T
NP_945355.1:n.-89C>T
NR_047516.1:n.140C>T
XM_006721520.1:c.-589C>T
XP_006721583.1:n.-589C>T
NM_001330064.1:c.-589C>T
NP_001316993.1:n.-589C>T
XM_024450751.1:c.-89C>T
XP_024306519.1:n.-89C>T
XM_024450752.1:c.-634C>T
XP_024306520.1:n.-634C>T
XM_024450753.1:c.-589C>T
XP_024306521.1:n.-589C>T
XR_002958006.1:n.4C>T
XR_002958007.1:n.4C>T
NM_004313.4:c.-89C>T
MANE Select
NP_004304.1:n.-89C>T
NM_001257328.2:c.-89C>T
NP_001244257.1:n.-89C>T
NM_001257329.2:c.-89C>T
NP_001244258.1:n.-89C>T
NM_001257330.2:c.-89C>T
NP_001244259.1:n.-89C>T
NM_001257331.2:c.-89C>T
NP_001244260.1:n.-89C>T
NM_001330064.2:c.-589C>T
NP_001316993.1:n.-589C>T
NM_199004.2:c.-89C>T
NP_945355.1:n.-89C>T
NR_047516.2:n.2C>T