gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001559 (AFR)
Genomes Max Group AF
0.0001559 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12691918G>C , CM000686.2:g.12691918G>C | GRCh38 |
| NC_000024.9:g.14803847G>C , CM000686.1:g.14803847G>C | GRCh37 |
| NC_000024.8:g.13313241G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440408.5:n.4969G>C | ||
| ENST00000457658.6:n.1261+1477G>C (USP9Y) | ||
| ENST00000651177.1:c.-107+5312G>C (USP9Y) | ENSP00000498372.1:n.-107+5312G>C | |
| NR_001545.2:n.4936G>C (TTTY15) | ||
| NR_001545.3:n.4951G>C (TTTY15) | ||
| NR_174085.1:n.4904G>C (TTTY15) | ||
| NR_174086.1:n.4683G>C (TTTY15) | ||
| NR_174087.1:n.4730G>C (TTTY15) | ||
| NR_174088.1:n.2089G>C (TTTY15) |