gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26381894 (AFR)
Genomes Max Group AF
0.26381224 (AFR)
Exomes Max Group AF
0.20605075 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109274570A>G , CM000663.2:g.109274570A>G | GRCh38 |
| NC_000001.10:g.109817192A>G , CM000663.1:g.109817192A>G | GRCh37 |
| NC_000001.9:g.109618715A>G | NCBI36 |
| NG_052669.1:g.29866A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.*521A>G MANE Select | ENSP00000271332.3:n.*521A>G | |
| ENST00000271332.3:c.*521A>G | ENSP00000271332.3:n.*521A>G | |
| ENST00000498157.1:n.2643A>G | ||
| NM_001408.2:c.*521A>G | NP_001399.1:n.*521A>G | |
| XM_005270580.3:c.*388A>G | XP_005270637.1:n.*388A>G | |
| NM_001408.3:c.*521A>G MANE Select | NP_001399.1:n.*521A>G |