×
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_000012.12:g.47993812C>G , CM000674.2:g.47993812C>G
GRCh38
NC_000012.11:g.48387595C>G , CM000674.1:g.48387595C>G
GRCh37
NC_000012.10:g.46673862C>G
NCBI36
NG_008072.1:g.15691G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000337299.7:c.714G>C
ENSP00000338213.6:p.Val238=
ENST00000380518.8:c.921G>C
MANE Select
ENSP00000369889.3:p.Val307=
ENST00000337299.6:c.714G>C
ENSP00000338213.6:p.Val238=
ENST00000380518.7:c.921G>C
ENSP00000369889.3:p.Val307=
NM_001844.4:c.921G>C
NP_001835.3:p.Val307=
NM_033150.2:c.714G>C
NP_149162.2:p.Val238=
XM_006719242.2:c.1065G>C
XP_006719305.2:p.Val355=
XM_011537928.1:c.1065G>C
XP_011536230.1:p.Val355=
XM_011537929.1:c.1065G>C
XP_011536231.1:p.Val355=
XM_011537930.1:c.1065G>C
XP_011536232.1:p.Val355=
XM_011537931.1:c.1065G>C
XP_011536233.1:p.Val355=
XM_011537932.1:c.1065G>C
XP_011536234.1:p.Val355=
XM_011537933.1:c.1065G>C
XP_011536235.1:p.Val355=
XM_011537934.1:c.1062G>C
XP_011536236.1:p.Val354=
XM_017018828.1:c.1065G>C
XP_016874317.1:p.Val355=
XM_017018829.1:c.1062G>C
XP_016874318.1:p.Val354=
XM_017018830.1:c.855G>C
XP_016874319.1:p.Val285=
XM_017018831.2:c.375G>C
XP_016874320.1:p.Val125=
NM_001844.5:c.921G>C
MANE Select
NP_001835.3:p.Val307=
NM_033150.3:c.714G>C
NP_149162.2:p.Val238=