ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01433382 (MID)
Genomes Max Group AF
0.00225705 (AMR)
Exomes Max Group AF
0.01284178 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941887C>T , CM000674.2:g.131941887C>T | GRCh38 |
| NC_000012.11:g.132426432C>T , CM000674.1:g.132426432C>T | GRCh37 |
| NC_000012.10:g.130992385C>T | NCBI36 |
| NG_013039.1:g.17688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.1140C>T MANE Select | ENSP00000365837.3:p.Thr380= | |
| ENST00000322060.9:c.1056C>T | ENSP00000324726.5:p.Thr352= | |
| ENST00000376649.7:c.1140C>T | ENSP00000365837.3:p.Thr380= | |
| ENST00000443358.6:c.1056C>T | ENSP00000392451.2:p.Thr352= | |
| ENST00000535067.5:c.358-1652C>T | ENSP00000443969.1:n.358-1652C>T | |
| ENST00000542167.2:c.981C>T | ENSP00000438948.1:p.Thr327= | |
| ENST00000543754.1:n.961C>T | ||
| NM_001002019.2:c.1056C>T | NP_001002019.1:p.Thr352= | |
| NM_001002020.2:c.1056C>T | NP_001002020.1:p.Thr352= | |
| NM_025215.5:c.1140C>T | NP_079491.2:p.Thr380= | |
| XM_011538768.1:c.741C>T | XP_011537070.1:p.Thr247= | |
| XM_011538768.3:c.741C>T | XP_011537070.1:p.Thr247= | |
| XR_001748872.1:n.1595C>T | ||
| NM_001002019.3:c.1056C>T | NP_001002019.1:p.Thr352= | |
| NM_001002020.3:c.1056C>T | NP_001002020.1:p.Thr352= | |
| NM_025215.6:c.1140C>T MANE Select | NP_079491.2:p.Thr380= |