gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7800226 (EAS)
Genomes Max Group AF
0.75120892 (EAS)
Exomes Max Group AF
0.78208253 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57574932C>G , CM000674.2:g.57574932C>G | GRCh38 |
| NC_000012.11:g.57968715C>G , CM000674.1:g.57968715C>G | GRCh37 |
| NC_000012.10:g.56254982C>G | NCBI36 |
| NG_008155.1:g.29869C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.1717-152C>G MANE Select | ENSP00000408979.2:n.1717-152C>G | |
| ENST00000674619.1:c.1717-152C>G | ENSP00000502270.1:n.1717-152C>G | |
| ENST00000675629.1:c.46-152C>G | ENSP00000502531.1:n.46-152C>G | |
| ENST00000675882.1:n.704-152C>G | ||
| ENST00000675929.1:n.275-152C>G | ||
| ENST00000675984.1:n.959-152C>G | ||
| ENST00000676081.1:n.863-152C>G | ||
| ENST00000676352.1:c.208-152C>G | ENSP00000501978.1:n.208-152C>G | |
| ENST00000676457.1:c.1612-152C>G | ENSP00000501588.1:n.1612-152C>G | |
| ENST00000286452.5:c.1450-152C>G | ENSP00000286452.5:n.1450-152C>G | |
| ENST00000455537.6:c.1717-152C>G | ENSP00000408979.2:n.1717-152C>G | |
| NM_004984.2:c.1717-152C>G | NP_004975.2:n.1717-152C>G | |
| NM_001354705.1:c.1450-152C>G | NP_001341634.1:n.1450-152C>G | |
| NM_004984.3:c.1717-152C>G | NP_004975.2:n.1717-152C>G | |
| XR_002957324.1:n.1950-152C>G | ||
| NM_004984.4:c.1717-152C>G MANE Select | NP_004975.2:n.1717-152C>G | |
| NM_001354705.2:c.1450-152C>G | NP_001341634.1:n.1450-152C>G |