gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36290297 (AFR)
Genomes Max Group AF
0.36290297 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37840540C>A , CM000667.2:g.37840540C>A | GRCh38 |
| NC_000005.9:g.37840642C>A , CM000667.1:g.37840642C>A | GRCh37 |
| NC_000005.8:g.37876399C>A | NCBI36 |
| NG_011675.2:g.4141G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_103441.1:n.103C>A | ||
| NR_103441.2:n.103C>A | ||
| NR_145476.1:n.155+502C>A |