gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43748758 (EAS)
Genomes Max Group AF
0.45251397 (EAS)
Exomes Max Group AF
0.43382241 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76732299A>T , CM000667.2:g.76732299A>T | GRCh38 |
| NC_000005.9:g.76028124A>T , CM000667.1:g.76028124A>T | GRCh37 |
| NC_000005.8:g.76063880A>T | NCBI36 |
| NG_032906.1:g.21257A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319211.5:c.89-15A>T MANE Select | ENSP00000321326.4:n.89-15A>T | |
| ENST00000319211.4:c.89-15A>T | ENSP00000321326.4:n.89-15A>T | |
| NM_001311313.1:c.-275-15A>T | NP_001298242.1:n.-275-15A>T | |
| NM_001992.3:c.89-15A>T | NP_001983.2:n.89-15A>T | |
| NM_001992.4:c.89-15A>T | NP_001983.2:n.89-15A>T | |
| NM_001992.5:c.89-15A>T MANE Select | NP_001983.2:n.89-15A>T | |
| NM_001311313.2:c.-275-15A>T | NP_001298242.1:n.-275-15A>T |