gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67883158 (AFR)
Genomes Max Group AF
0.67886183 (AFR)
Exomes Max Group AF
0.45522447 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167119305A>G , CM000668.2:g.167119305A>G | GRCh38 |
| NC_000006.11:g.167532793A>G , CM000668.1:g.167532793A>G | GRCh37 |
| NC_000006.10:g.167452783A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609590.2:n.2170-15629A>G | ||
| ENST00000705249.1:c.1066-16733A>G | ENSP00000516101.1:n.1066-16733A>G | |
| ENST00000705250.1:c.844-16733A>G | ENSP00000516102.1:n.844-16733A>G | |
| ENST00000705251.1:c.*713-16733A>G | ENSP00000516103.1:n.*713-16733A>G | |
| ENST00000705252.1:c.*536-16733A>G | ENSP00000516104.1:n.*536-16733A>G | |
| ENST00000705253.1:c.*536-16733A>G | ENSP00000516105.1:n.*536-16733A>G | |
| ENST00000705254.1:c.673-16733A>G | ENSP00000516106.1:n.673-16733A>G | |
| ENST00000705255.1:n.1692-16733A>G | ||
| ENST00000400926.5:c.-98+7291A>G | ENSP00000383715.2:n.-98+7291A>G | |
| NM_004367.5:c.-98+7291A>G | NP_004358.2:n.-98+7291A>G | |
| XR_943250.1:n.3290T>C | ||
| XR_943251.1:n.3290T>C | ||
| XR_001744467.2:n.1225T>C | ||
| XR_001744469.2:n.1155T>C | ||
| XR_943250.3:n.3057T>C | ||
| XR_943251.3:n.3298T>C | ||
| NM_004367.6:c.-98+7291A>G | NP_004358.2:n.-98+7291A>G |