gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3160726 (AFR)
Genomes Max Group AF
0.3160726 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.94930613T>C , CM000674.2:g.94930613T>C | GRCh38 |
| NC_000012.11:g.95324389T>C , CM000674.1:g.95324389T>C | GRCh37 |
| NC_000012.10:g.93848520T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552205.6:c.258-2350A>G | ENSP00000449144.2:n.258-2350A>G | |
| ENST00000552205.5:c.150-2350A>G |