gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82265766 (NFE)
Genomes Max Group AF
0.79776265 (NFE)
Exomes Max Group AF
0.82407465 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529484T>G , CM000685.2:g.74529484T>G | GRCh38 |
| NC_000023.10:g.73749319T>G , CM000685.1:g.73749319T>G | GRCh37 |
| NC_000023.9:g.73666044T>G | NCBI36 |
| NG_011641.1:g.113235T>G | |
| NG_011641.2:g.113235T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1399+43T>G MANE Select | ENSP00000465734.1:n.1399+43T>G | |
| ENST00000636771.1:c.1308+43T>G | ||
| ENST00000587091.5:c.1399+43T>G | ENSP00000465734.1:n.1399+43T>G | |
| ENST00000590447.1:c.611-1849T>G | ||
| NM_006517.4:c.1399+43T>G | NP_006508.2:n.1399+43T>G | |
| XM_005262294.1:c.1171-1849T>G | XP_005262351.1:n.1171-1849T>G | |
| NM_006517.5:c.1399+43T>G MANE Select | NP_006508.2:n.1399+43T>G |