gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16037614 (EAS)
Genomes Max Group AF
0.16037614 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80708937T>G , CM000677.2:g.80708937T>G | GRCh38 |
| NC_000015.9:g.81001278T>G , CM000677.1:g.81001278T>G | GRCh37 |
| NC_000015.8:g.78788333T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258884.5:c.590+12918T>G MANE Select | ENSP00000258884.4:n.590+12918T>G | |
| ENST00000258884.4:c.590+12918T>G | ENSP00000258884.4:n.590+12918T>G | |
| ENST00000558464.1:c.590+12918T>G | ENSP00000452778.1:n.590+12918T>G | |
| ENST00000559506.5:n.786+5469T>G | ||
| ENST00000560126.1:n.395+3825T>G | ||
| ENST00000560609.1:c.-116+29176T>G | ENSP00000453923.1:n.-116+29176T>G | |
| NM_021214.1:c.590+12918T>G | NP_067037.1:n.590+12918T>G | |
| NM_021214.2:c.590+12918T>G MANE Select | NP_067037.1:n.590+12918T>G |