gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70539267 (AMR)
Genomes Max Group AF
0.6813228 (AMR)
Exomes Max Group AF
0.71909656 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44878777A>G , CM000681.2:g.44878777A>G | GRCh38 |
| NC_000019.9:g.45382034A>G , CM000681.1:g.45382034A>G | GRCh37 |
| NC_000019.8:g.50073874A>G | NCBI36 |
| NG_029149.1:g.37642A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252483.10:c.1043-3434A>G MANE Select | ENSP00000252483.4:n.1043-3434A>G | |
| ENST00000252483.9:c.1043-3434A>G | ENSP00000252483.4:n.1043-3434A>G | |
| ENST00000252485.8:c.*157A>G | ENSP00000252485.3:n.*157A>G | |
| ENST00000585601.1:c.489A>G | ENSP00000465511.1:n.489A>G | |
| ENST00000591581.1:c.789A>G | ||
| NM_001042724.1:c.1043-3434A>G | NP_001036189.1:n.1043-3434A>G | |
| NM_002856.2:c.*157A>G | NP_002847.1:n.*157A>G | |
| XM_011527192.1:c.*157A>G | XP_011525494.1:n.*157A>G | |
| NM_001042724.2:c.1043-3434A>G MANE Select | NP_001036189.1:n.1043-3434A>G | |
| NM_002856.3:c.*157A>G | NP_002847.1:n.*157A>G |