gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17731476 (AFR)
Genomes Max Group AF
0.17731476 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45778528G>C , CM000679.2:g.45778528G>C | GRCh38 |
| NC_000017.10:g.43855894G>C , CM000679.1:g.43855894G>C | GRCh37 |
| NC_000017.9:g.41211660G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587305.1:n.448-28482G>C | ||
| ENST00000634540.1:c.-492-28482G>C | ENSP00000488912.1:n.-492-28482G>C | |
| NM_001256299.2:c.-492-28482G>C | NP_001243228.1:n.-492-28482G>C | |
| NM_001303016.1:c.-184-28482G>C | NP_001289945.1:n.-184-28482G>C | |
| NM_001256299.3:c.-492-28482G>C | NP_001243228.1:n.-492-28482G>C |