gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25518103 (AFR)
Genomes Max Group AF
0.25518103 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135894824G>A , CM000667.2:g.135894824G>A | GRCh38 |
| NC_000005.9:g.135230513G>A , CM000667.1:g.135230513G>A | GRCh37 |
| NC_000005.8:g.135258412G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274520.2:c.183+616C>T MANE Select | ENSP00000274520.1:n.183+616C>T | |
| ENST00000274520.1:c.183+616C>T | ENSP00000274520.1:n.183+616C>T | |
| NM_000590.1:c.183+616C>T | NP_000581.1:n.183+616C>T | |
| NM_000590.2:c.183+616C>T MANE Select | NP_000581.1:n.183+616C>T |