gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18366704 (AFR)
Genomes Max Group AF
0.17942744 (AFR)
Exomes Max Group AF
0.18654908 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45893001C>T , CM000669.2:g.45893001C>T | GRCh38 |
| NC_000007.13:g.45932600C>T , CM000669.1:g.45932600C>T | GRCh37 |
| NC_000007.12:g.45899125C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275525.8:c.690C>T MANE Select | ENSP00000275525.3:p.Cys230= | |
| ENST00000275525.7:c.690C>T | ENSP00000275525.3:p.Cys230= | |
| ENST00000457280.5:c.684C>T | ENSP00000413511.1:p.Cys228= | |
| ENST00000468955.1:c.561C>T | ENSP00000417069.1:p.Cys187= | |
| NM_000596.2:c.690C>T | NP_000587.1:p.Cys230= | |
| NM_000596.3:c.690C>T | NP_000587.1:p.Cys230= | |
| NM_000596.4:c.690C>T MANE Select | NP_000587.1:p.Cys230= |