gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60072319 (SAS)
Genomes Max Group AF
0.60072319 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95583508G>A , CM000670.2:g.95583508G>A | GRCh38 |
| NC_000008.10:g.96595736G>A , CM000670.1:g.96595736G>A | GRCh37 |
| NC_000008.9:g.96664912G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038201.1:n.282-27156G>A | ||
| NR_038202.1:n.211-27156G>A | ||
| NR_038203.1:n.127-27156G>A | ||
| NR_038204.1:n.56-27156G>A | ||
| NR_038205.1:n.56-27156G>A | ||
| NR_038206.1:n.56-27156G>A | ||
| NR_038207.1:n.210+150728G>A | ||
| NR_038208.1:n.127-216988G>A | ||
| NR_038209.1:n.219-27156G>A |