gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99211161 (EAS)
Genomes Max Group AF
0.98461779 (AFR)
Exomes Max Group AF
0.99167865 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20210652T>G , CM000670.2:g.20210652T>G | GRCh38 |
| NC_000008.10:g.20068163T>G , CM000670.1:g.20068163T>G | GRCh37 |
| NC_000008.9:g.20112443T>G | NCBI36 |
| NG_047013.1:g.18460T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276390.7:c.463+6T>G MANE Select | ENSP00000276390.2:n.463+6T>G | |
| ENST00000276390.6:c.463+6T>G | ENSP00000276390.2:n.463+6T>G | |
| ENST00000519667.1:c.431+6T>G | ||
| ENST00000520830.1:c.571+6T>G | ||
| ENST00000523478.5:c.*254+6T>G | ENSP00000430154.1:n.*254+6T>G | |
| ENST00000523482.5:n.467+6T>G | ||
| NM_001693.3:c.463+6T>G | NP_001684.2:n.463+6T>G | |
| XR_002956632.1:n.495+6T>G | ||
| XR_002956633.1:n.495+6T>G | ||
| NM_001693.4:c.463+6T>G MANE Select | NP_001684.2:n.463+6T>G |