×
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.87508430A>G , CM000672.2:g.87508430A>G
GRCh38
NC_000010.10:g.89268187A>G , CM000672.1:g.89268187A>G
GRCh37
NC_000010.9:g.89258167A>G
NCBI36
NG_013023.1:g.8965A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371996.9:c.732A>G
MANE Select
ENSP00000361064.4:p.Thr244=
ENST00000371994.8:c.732A>G
ENSP00000361062.4:p.Thr244=
ENST00000371996.8:c.732A>G
ENSP00000361064.4:p.Thr244=
ENST00000536010.1:c.129A>G
ENSP00000437823.1:p.Thr43=
NM_001178117.1:c.732A>G
NP_001171588.1:p.Thr244=
NM_001178118.1:c.129A>G
NP_001171589.1:p.Thr43=
NM_004897.4:c.732A>G
NP_004888.2:p.Thr244=
XM_006718078.2:c.732A>G
XP_006718141.1:p.Thr244=
XM_011540379.1:c.129A>G
XP_011538681.1:p.Thr43=
XR_945884.1:n.2856A>G
XM_006718078.3:c.732A>G
XP_006718141.1:p.Thr244=
XM_011540379.3:c.129A>G
XP_011538681.1:p.Thr43=
XM_017016965.2:c.732A>G
XP_016872454.1:p.Thr244=
NM_004897.5:c.732A>G
MANE Select
NP_004888.2:p.Thr244=
NM_001178117.2:c.732A>G
NP_001171588.1:p.Thr244=
NM_001178118.2:c.129A>G
NP_001171589.1:p.Thr43=