gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11384833 (EAS)
Genomes Max Group AF
0.10114622 (EAS)
Exomes Max Group AF
0.11493027 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186584A>G , CM000668.2:g.52186584A>G | GRCh38 |
| NC_000006.11:g.52051382A>G , CM000668.1:g.52051382A>G | GRCh37 |
| NC_000006.10:g.52159341A>G | NCBI36 |
| NG_033021.1:g.5198A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.27+126A>G MANE Select | ENSP00000497968.1:n.27+126A>G | |
| ENST00000340057.1:c.27+126A>G | ENSP00000344192.1:n.27+126A>G | |
| NM_002190.2:c.27+126A>G | NP_002181.1:n.27+126A>G | |
| NM_002190.3:c.27+126A>G MANE Select | NP_002181.1:n.27+126A>G |