gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58832967 (EAS)
Genomes Max Group AF
0.58832967 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.31373516G>A , CM000681.2:g.31373516G>A | GRCh38 |
| NC_000019.9:g.31864422G>A , CM000681.1:g.31864422G>A | GRCh37 |
| NC_000019.8:g.36556262G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011527564.1:c.203+5875G>A | XP_011525866.1:n.203+5875G>A | |
| XR_001753896.1:n.146+21890G>A | ||
| XR_001753897.1:n.142+21890G>A | ||
| XR_001753898.1:n.142+21890G>A | ||
| XR_001753899.1:n.145+21890G>A | ||
| XR_001753900.1:n.148+21890G>A | ||
| XR_002958388.1:n.268+24599G>A |