×
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_000010.11:g.79557512A>G , CM000672.2:g.79557512A>G
GRCh38
NC_000010.10:g.81317268A>G , CM000672.1:g.81317268A>G
GRCh37
NG_013046.1:g.7896T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372325.7:c.444T>C
MANE Select
ENSP00000361400.2:p.Phe148=
ENST00000372325.6:c.444T>C
ENSP00000361400.2:p.Phe148=
ENST00000372327.9:c.444T>C
ENSP00000361402.5:p.Phe148=
ENST00000417041.1:c.444T>C
ENSP00000397375.1:p.Phe148=
NM_001098668.2:c.444T>C
NP_001092138.1:p.Phe148=
XM_005270128.2:c.495T>C
XP_005270185.1:p.Phe165=
XM_005270131.3:c.444T>C
XP_005270188.1:p.Phe148=
XM_005270132.3:c.444T>C
XP_005270189.1:p.Phe148=
XM_011540124.1:c.444T>C
XP_011538426.1:p.Phe148=
XM_011540125.1:c.444T>C
XP_011538427.1:p.Phe148=
NM_001098668.3:c.444T>C
NP_001092138.1:p.Phe148=
NM_001320813.1:c.444T>C
NP_001307742.1:p.Phe148=
NM_001320814.1:c.474T>C
NP_001307743.1:p.Phe158=
XM_005270128.3:c.495T>C
XP_005270185.1:p.Phe165=
XM_017016608.1:c.444T>C
XP_016872097.1:p.Phe148=
NM_001098668.4:c.444T>C
MANE Select
NP_001092138.1:p.Phe148=
NM_001320813.2:c.444T>C
NP_001307742.1:p.Phe148=