gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29632831 (EAS)
Genomes Max Group AF
0.29632831 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42570706G>A , CM000675.2:g.42570706G>A | GRCh38 |
| NC_000013.10:g.43144842G>A , CM000675.1:g.43144842G>A | GRCh37 |
| NC_000013.9:g.42042842G>A | NCBI36 |
| NG_008990.1:g.12971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358545.6:c.-159-874G>A | ENSP00000351347.2:n.-159-874G>A | |
| ENST00000405262.6:c.-159-874G>A | ENSP00000384042.2:n.-159-874G>A | |
| NM_033012.3:c.-159-874G>A | NP_143026.1:n.-159-874G>A | |
| NM_033012.4:c.-159-874G>A | NP_143026.1:n.-159-874G>A |