gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54811711 (EAS)
Genomes Max Group AF
0.54811711 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087828G>A , CM000668.2:g.33087828G>A | GRCh38 |
| NC_000006.11:g.33055605G>A , CM000668.1:g.33055605G>A | GRCh37 |
| NC_000006.10:g.33163583G>A | NCBI36 |
| NG_033242.1:g.16903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.*1294G>A MANE Select | ENSP00000408146.2:n.*1294G>A | |
| NM_002121.5:c.*1294G>A | NP_002112.3:n.*1294G>A | |
| NM_002121.6:c.*1294G>A MANE Select | NP_002112.3:n.*1294G>A |