gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000611 (NFE)
Genomes Max Group AF
0.00000612 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36350207T>G , CM000673.2:g.36350207T>G | GRCh38 |
| NC_000011.9:g.36371757T>G , CM000673.1:g.36371757T>G | GRCh37 |
| NC_000011.8:g.36328333T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530639.6:c.-125-50790T>G MANE Select | ENSP00000435050.1:n.-125-50790T>G | |
| ENST00000527172.5:c.-291-43639T>G | ENSP00000433708.1:n.-291-43639T>G | |
| ENST00000529034.5:n.152-50790T>G | ||
| ENST00000530639.5:c.-125-50790T>G | ENSP00000435050.1:n.-125-50790T>G | |
| ENST00000532121.5:c.-126+142T>G | ENSP00000433893.1:n.-126+142T>G | |
| NM_001160167.1:c.-125-50790T>G | NP_001153639.1:n.-125-50790T>G | |
| NM_001160167.2:c.-125-50790T>G MANE Select | NP_001153639.1:n.-125-50790T>G |