gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73885961 (NFE)
Genomes Max Group AF
0.73885961 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71456989A>G , CM000673.2:g.71456989A>G | GRCh38 |
| NC_000011.9:g.71168035A>G , CM000673.1:g.71168035A>G | GRCh37 |
| NC_000011.8:g.70845683A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319023.7:c.147-1439A>G MANE Select | ENSP00000326424.2:n.147-1439A>G | |
| ENST00000319023.6:c.147-1439A>G | ENSP00000326424.2:n.147-1439A>G | |
| ENST00000524949.5:n.213-1439A>G | ||
| ENST00000525200.5:c.47-1439A>G | ||
| ENST00000525245.1:n.88-1439A>G | ||
| ENST00000527538.5:n.203-1439A>G | ||
| ENST00000528509.5:c.147-1439A>G | ENSP00000433472.1:n.147-1439A>G | |
| ENST00000529120.5:c.147-1439A>G | ENSP00000437220.1:n.147-1439A>G | |
| ENST00000533769.5:n.213-1439A>G | ||
| ENST00000534634.5:n.335-1439A>G | ||
| NM_018161.4:c.147-1439A>G | NP_060631.2:n.147-1439A>G | |
| NM_018161.5:c.147-1439A>G MANE Select | NP_060631.2:n.147-1439A>G |