gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000452 (AFR)
Genomes Max Group AF
0.00000797 (AFR)
Exomes Max Group AF
8.6e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39200366C>G , CM000679.2:g.39200366C>G | GRCh38 |
| NC_000017.10:g.37356619C>G , CM000679.1:g.37356619C>G | GRCh37 |
| NC_000017.9:g.34610145C>G | NCBI36 |
| NG_052811.1:g.2338G>C | |
| NG_053022.1:g.5084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225430.9:c.5+17C>G MANE Select | ENSP00000225430.4:n.5+17C>G | |
| ENST00000577741.2:n.33+17C>G | ||
| ENST00000678012.1:c.5+17C>G | ENSP00000504028.1:n.5+17C>G | |
| ENST00000678147.1:c.5+17C>G | ENSP00000504751.1:n.5+17C>G | |
| ENST00000678609.1:c.5+17C>G | ENSP00000502971.1:n.5+17C>G | |
| ENST00000679038.1:c.5+17C>G | ENSP00000504153.1:n.5+17C>G | |
| ENST00000225430.8:c.5+17C>G | ENSP00000225430.4:n.5+17C>G | |
| ENST00000579260.5:c.-379C>G | ENSP00000464538.1:n.-379C>G | |
| ENST00000579374.5:c.5+17C>G | ENSP00000463985.1:n.5+17C>G | |
| ENST00000580333.1:n.33+17C>G | ||
| ENST00000582193.5:c.-114C>G | ENSP00000462938.1:n.-114C>G | |
| NM_000981.3:c.5+17C>G | NP_000972.1:n.5+17C>G | |
| XM_005257564.2:c.-379C>G | XP_005257621.1:n.-379C>G | |
| NM_000981.4:c.5+17C>G MANE Select | NP_000972.1:n.5+17C>G | |
| NM_001330200.1:c.-379C>G | NP_001317129.1:n.-379C>G |