gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75917634 (EAS)
Genomes Max Group AF
0.75917634 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40857860T>C , CM000681.2:g.40857860T>C | GRCh38 |
| NC_000019.9:g.41363765T>C , CM000681.1:g.41363765T>C | GRCh37 |
| NC_000019.8:g.46055605T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601627.1:c.120-34131T>C | ||
| ENST00000610301.1:c.91-7524A>G | ENSP00000477899.1:n.91-7524A>G |