gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65744441 (EAS)
Genomes Max Group AF
0.65744441 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16379580G>T , CM000663.2:g.16379580G>T | GRCh38 |
| NC_000001.10:g.16706075G>T , CM000663.1:g.16706075G>T | GRCh37 |
| NC_000001.9:g.16578662G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401088.9:c.52-11795G>T MANE Select | ENSP00000383866.4:n.52-11795G>T | |
| ENST00000401088.8:c.52-11795G>T | ENSP00000383866.4:n.52-11795G>T | |
| ENST00000401089.3:c.44+12272G>T | ENSP00000383867.3:n.44+12272G>T | |
| ENST00000471507.5:c.52-11795G>T | ENSP00000419589.1:n.52-11795G>T | |
| ENST00000472351.5:n.63-7475G>T | ||
| ENST00000472461.1:n.305+11565G>T | ||
| ENST00000475078.1:n.363-13648G>T | ||
| ENST00000475554.5:n.67-10970G>T | ||
| ENST00000476423.5:c.45-7922G>T | ENSP00000420441.1:n.45-7922G>T | |
| ENST00000486763.5:n.75-7475G>T | ||
| ENST00000492354.1:c.44+12272G>T | ENSP00000418012.1:n.44+12272G>T | |
| NM_001114600.2:c.52-11795G>T | NP_001108072.1:n.52-11795G>T | |
| NM_001271869.1:c.52-11795G>T | NP_001258798.1:n.52-11795G>T | |
| NR_073500.1:n.279+12272G>T | ||
| NR_073501.1:n.280-7475G>T | ||
| NR_073502.1:n.279+12272G>T | ||
| NR_073503.1:n.279+12272G>T | ||
| NM_001114600.3:c.52-11795G>T MANE Select | NP_001108072.1:n.52-11795G>T | |
| NM_001271869.2:c.52-11795G>T | NP_001258798.1:n.52-11795G>T | |
| NR_073500.2:n.67+12272G>T | ||
| NR_073501.2:n.68-7475G>T | ||
| NR_073502.2:n.67+12272G>T | ||
| NR_073503.2:n.67+12272G>T |