gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00187746 (AFR)
Genomes Max Group AF
0.00207074 (AFR)
Exomes Max Group AF
0.00178266 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39682205C>T , CM000675.2:g.39682205C>T | GRCh38 |
| NC_000013.10:g.40256342C>T , CM000675.1:g.40256342C>T | GRCh37 |
| NC_000013.9:g.39154342C>T | NCBI36 |
| NG_028352.1:g.31579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.729C>T MANE Select | ENSP00000397441.2:p.Asp243= | |
| ENST00000356576.8:c.*566C>T | ENSP00000348983.4:n.*566C>T | |
| ENST00000416691.5:c.729C>T | ENSP00000403733.1:p.Asp243= | |
| ENST00000455146.7:c.729C>T | ENSP00000397441.2:p.Asp243= | |
| ENST00000465775.1:n.485C>T | ||
| ENST00000536488.5:c.461C>T | ||
| ENST00000537156.1:n.380C>T | ||
| NM_001145079.1:c.729C>T | NP_001138551.1:p.Asp243= | |
| NM_020751.2:c.729C>T | NP_065802.1:p.Asp243= | |
| NR_026745.1:n.894C>T | ||
| XM_011535168.1:c.729C>T | XP_011533470.1:p.Asp243= | |
| XM_011535169.1:c.573C>T | XP_011533471.1:p.Asp191= | |
| XM_011535170.1:c.573C>T | XP_011533472.1:p.Asp191= | |
| NM_020751.3:c.729C>T MANE Select | NP_065802.1:p.Asp243= | |
| NM_001145079.2:c.729C>T | NP_001138551.1:p.Asp243= |