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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_000005.10:g.53560641C>T , CM000667.2:g.53560641C>T
GRCh38
NC_000005.9:g.52856471C>T , CM000667.1:g.52856471C>T
GRCh37
NC_000005.8:g.52892228C>T
NCBI36
NG_008200.1:g.5007C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296684.10:c.-22C>T
MANE Select
ENSP00000296684.5:n.-22C>T
ENST00000296684.9:c.-22C>T
ENSP00000296684.5:n.-22C>T
ENST00000502423.5:c.-22C>T
ENSP00000422177.1:n.-22C>T
ENST00000507026.5:c.-22C>T
ENSP00000424993.1:n.-22C>T
NM_002495.2:c.-22C>T
NP_002486.1:n.-22C>T
XM_005248525.3:c.-22C>T
XP_005248582.1:n.-22C>T
XM_011543414.1:c.-22C>T
XP_011541716.1:n.-22C>T
NM_001318051.1:c.-22C>T
NP_001304980.1:n.-22C>T
NM_002495.3:c.-22C>T
NP_002486.1:n.-22C>T
NR_134473.1:n.9C>T
NR_134474.1:n.9C>T
NR_134475.1:n.9C>T
XM_017009491.1:c.-22C>T
XP_016864980.1:n.-22C>T
NM_002495.4:c.-22C>T
MANE Select
NP_002486.1:n.-22C>T
NM_001318051.2:c.-22C>T
NP_001304980.1:n.-22C>T
NR_134473.2:n.3C>T
NR_134474.2:n.3C>T
NR_134475.2:n.3C>T