gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06678196 (SAS)
Genomes Max Group AF
0.06678196 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12678234A>G , CM000686.2:g.12678234A>G | GRCh38 |
| NC_000024.9:g.14790163A>G , CM000686.1:g.14790163A>G | GRCh37 |
| NC_000024.8:g.13299557A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417071.1:n.218-8279A>G | ||
| ENST00000440408.5:n.421-8279A>G | ||
| ENST00000457658.6:n.1052-8279A>G (USP9Y) | ||
| ENST00000651177.1:c.-200-8279A>G (USP9Y) | ENSP00000498372.1:n.-200-8279A>G | |
| NR_001545.2:n.388-8279A>G (TTTY15) | ||
| NR_001545.3:n.403-8279A>G (TTTY15) | ||
| NR_174085.1:n.356-8279A>G (TTTY15) | ||
| NR_174086.1:n.356-8279A>G (TTTY15) | ||
| NR_174087.1:n.403-8279A>G (TTTY15) | ||
| NR_174088.1:n.403-8279A>G (TTTY15) |