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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_000011.10:g.108147597T>C , CM000673.2:g.108147597T>C
GRCh38
NC_000011.9:g.108018324T>C , CM000673.1:g.108018324T>C
GRCh37
NC_000011.8:g.107523534T>C
NCBI36
NG_009888.1:g.31067T>C
NG_009888.2:g.35893T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265838.9:c.*207T>C
MANE Select
ENSP00000265838.4:n.*207T>C
ENST00000672367.1:c.*207T>C
ENSP00000500209.1:n.*207T>C
ENST00000672907.1:c.*207T>C
ENSP00000500928.1:n.*207T>C
ENST00000265838.8:c.*207T>C
ENSP00000265838.4:n.*207T>C
NM_000019.3:c.*207T>C
NP_000010.1:n.*207T>C
XM_006718834.2:c.*207T>C
XP_006718897.1:n.*207T>C
XM_006718835.2:c.*207T>C
XP_006718898.1:n.*207T>C
XM_006718835.3:c.*207T>C
XP_006718898.1:n.*207T>C
XM_017017681.1:c.*207T>C
XP_016873170.1:n.*207T>C
XM_017017682.2:c.*207T>C
XP_016873171.1:n.*207T>C
XM_017017683.2:c.*207T>C
XP_016873172.1:n.*207T>C
XM_024448511.1:c.*207T>C
XP_024304279.1:n.*207T>C
XM_024448512.1:c.*207T>C
XP_024304280.1:n.*207T>C
XM_024448513.1:c.*207T>C
XP_024304281.1:n.*207T>C
XM_024448514.1:c.*207T>C
XP_024304282.1:n.*207T>C
XM_024448515.1:c.*207T>C
XP_024304283.1:n.*207T>C
NM_000019.4:c.*207T>C
MANE Select
NP_000010.1:n.*207T>C
NM_001386677.1:c.*207T>C
NP_001373606.1:n.*207T>C
NM_001386678.1:c.*207T>C
NP_001373607.1:n.*207T>C
NM_001386679.1:c.*207T>C
NP_001373608.1:n.*207T>C
NM_001386681.1:c.*207T>C
NP_001373610.1:n.*207T>C
NM_001386682.1:c.*207T>C
NP_001373611.1:n.*207T>C
NM_001386685.1:c.*207T>C
NP_001373614.1:n.*207T>C
NM_001386686.1:c.*207T>C
NP_001373615.1:n.*207T>C
NM_001386687.1:c.*207T>C
NP_001373616.1:n.*207T>C
NM_001386688.1:c.*207T>C
NP_001373617.1:n.*207T>C
NM_001386689.1:c.*207T>C
NP_001373618.1:n.*207T>C
NM_001386690.1:c.*207T>C
NP_001373619.1:n.*207T>C
NM_001386691.1:c.*207T>C
NP_001373620.1:n.*207T>C
NR_170162.1:n.1466T>C
NR_170163.1:n.1524T>C