gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08360164 (AFR)
Genomes Max Group AF
0.08297229 (AFR)
Exomes Max Group AF
0.0827756 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31576865A>G , CM000668.2:g.31576865A>G | GRCh38 |
| NC_000006.11:g.31544642A>G , CM000668.1:g.31544642A>G | GRCh37 |
| NC_000006.10:g.31652621A>G | NCBI36 |
| NG_007462.1:g.6293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699334.1:c.234+51A>G | ENSP00000514308.1:n.234+51A>G | |
| ENST00000449264.3:c.280+51A>G MANE Select | ENSP00000398698.2:n.280+51A>G | |
| ENST00000449264.2:c.280+51A>G | ENSP00000398698.2:n.280+51A>G | |
| NM_000594.3:c.280+51A>G | NP_000585.2:n.280+51A>G | |
| NM_000594.4:c.280+51A>G MANE Select | NP_000585.2:n.280+51A>G |