gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00203928 (AFR)
Genomes Max Group AF
0.00203928 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12663173C>G , CM000686.2:g.12663173C>G | GRCh38 |
| NC_000024.9:g.14775104C>G , CM000686.1:g.14775104C>G | GRCh37 |
| NC_000024.8:g.13284498C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417071.1:n.170+467C>G | ||
| ENST00000440408.5:n.373+467C>G | ||
| ENST00000457658.6:n.1004+467C>G (USP9Y) | ||
| ENST00000651177.1:c.-248+467C>G (USP9Y) | ENSP00000498372.1:n.-248+467C>G | |
| NR_001545.2:n.340+467C>G (TTTY15) | ||
| XR_938612.1:n.490+131G>C | ||
| XR_938613.1:n.433+188G>C | ||
| XR_002958838.1:n.660+131G>C | ||
| XR_002958839.1:n.603+188G>C | ||
| NR_001545.3:n.355+467C>G (TTTY15) | ||
| NR_174085.1:n.355+467C>G (TTTY15) | ||
| NR_174086.1:n.355+467C>G (TTTY15) | ||
| NR_174087.1:n.355+467C>G (TTTY15) | ||
| NR_174088.1:n.355+467C>G (TTTY15) |