gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40748794 (NFE)
Genomes Max Group AF
0.40748794 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119312113A>G , CM000665.2:g.119312113A>G | GRCh38 |
| NC_000003.11:g.119030960A>G , CM000665.1:g.119030960A>G | GRCh37 |
| NC_000003.10:g.120513650A>G | NCBI36 |
| NG_007665.2:g.22741A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.100+17109A>G MANE Select | ENSP00000264245.4:n.100+17109A>G | |
| ENST00000264245.8:c.100+17109A>G | ENSP00000264245.4:n.100+17109A>G | |
| NM_020754.3:c.100+17109A>G | NP_065805.2:n.100+17109A>G | |
| XM_006713714.2:c.100+17109A>G | XP_006713777.1:n.100+17109A>G | |
| XM_006713714.3:c.100+17109A>G | XP_006713777.1:n.100+17109A>G | |
| XM_017006955.1:c.-248+17109A>G | XP_016862444.1:n.-248+17109A>G | |
| NM_020754.4:c.100+17109A>G MANE Select | NP_065805.2:n.100+17109A>G |