gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24283327 (EAS)
Genomes Max Group AF
0.24283327 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133535863G>A , CM000672.2:g.133535863G>A | GRCh38 |
| NC_000010.10:g.135349367G>A , CM000672.1:g.135349367G>A | GRCh37 |
| NC_000010.9:g.135199357G>A | NCBI36 |
| NG_008383.1:g.13501G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.968-1200G>A MANE Select | ENSP00000252945.3:n.968-1200G>A | |
| ENST00000252945.7:c.968-1200G>A | ENSP00000252945.3:n.968-1200G>A | |
| ENST00000368520.1:n.1029-1200G>A | ||
| ENST00000418356.1:c.557-1200G>A | ENSP00000397299.1:n.557-1200G>A | |
| ENST00000421586.5:c.707-1200G>A | ENSP00000412754.1:n.707-1200G>A | |
| ENST00000463117.6:c.968-1200G>A | ENSP00000440689.1:n.968-1200G>A | |
| ENST00000541080.5:c.384-1200G>A | ||
| NM_000773.3:c.968-1200G>A | NP_000764.1:n.968-1200G>A | |
| NM_000773.4:c.968-1200G>A MANE Select | NP_000764.1:n.968-1200G>A |