gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01496058 (AFR)
Genomes Max Group AF
0.01495907 (AFR)
Exomes Max Group AF
0.01429153 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80203244G>C , CM000676.2:g.80203244G>C | GRCh38 |
| NC_000014.8:g.80669587G>C , CM000676.1:g.80669587G>C | GRCh37 |
| NC_000014.7:g.79739340G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438257.9:c.267C>G MANE Select | ENSP00000405854.5:p.Val89= | |
| ENST00000555750.2:c.*105C>G | ENSP00000450980.2:n.*105C>G | |
| ENST00000422005.7:c.*68C>G | ENSP00000411438.4:n.*68C>G | |
| ENST00000438257.8:c.267C>G | ENSP00000405854.4:p.Val89= | |
| ENST00000555750.1:c.375C>G | ENSP00000450980.1:p.Val125= | |
| ENST00000555844.1:c.351C>G | ||
| ENST00000556811.5:c.243C>G | ||
| ENST00000557010.5:c.267C>G | ENSP00000451419.1:p.Val89= | |
| ENST00000557125.1:c.49-158C>G | ENSP00000450547.1:n.49-158C>G | |
| NM_000793.5:c.267C>G | NP_000784.2:p.Val89= | |
| NM_001007023.3:c.375C>G | NP_001007024.1:p.Val125= | |
| NM_001242502.1:c.*68C>G | NP_001229431.1:n.*68C>G | |
| NM_001242503.1:c.*68C>G | NP_001229432.1:n.*68C>G | |
| NM_013989.4:c.267C>G | NP_054644.1:p.Val89= | |
| NM_000793.6:c.267C>G | NP_000784.3:p.Val89= | |
| NM_001324462.2:c.267C>G | NP_001311391.2:p.Val89= | |
| NM_001366496.1:c.267C>G | NP_001353425.1:p.Val89= | |
| NM_013989.5:c.267C>G MANE Select | NP_054644.1:p.Val89= | |
| NR_158990.1:n.407C>G | ||
| NR_158991.1:n.541C>G |