gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97572859 (EAS)
Genomes Max Group AF
0.97572859 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26774814C>T , CM000677.2:g.26774814C>T | GRCh38 |
| NC_000015.9:g.27019961C>T , CM000677.1:g.27019961C>T | GRCh37 |
| NC_000015.8:g.24571054C>T | NCBI36 |
| NG_012836.1:g.3967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541819.6:c.249-2042G>A | ENSP00000442408.2:n.249-2042G>A | |
| ENST00000557641.5:n.453-2042G>A |