gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003076 (SAS)
Exomes Max Group AF
0.00002456 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243580C>T , CM000681.2:g.39243580C>T | GRCh38 |
| NC_000019.9:g.39734220C>T , CM000681.1:g.39734220C>T | GRCh37 |
| NC_000019.8:g.44426060C>T | NCBI36 |
| NG_042193.1:g.6392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.*52G>A | ENSP00000481633.1:n.*52G>A | |
| ENST00000413851.3:c.*52G>A MANE Select | ENSP00000409000.2:n.*52G>A | |
| ENST00000613087.4:c.*52G>A | ENSP00000481633.1:n.*52G>A | |
| NM_172139.4:c.*52G>A MANE Select | NP_742151.2:n.*52G>A | |
| NM_001346937.2:c.*52G>A | NP_001333866.1:n.*52G>A |