Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2885045G>A , CM000686.2:g.2885045G>A | GRCh38 |
| NC_000024.9:g.2753086G>A , CM000686.1:g.2753086G>A | GRCh37 |
| NC_000024.8:g.2813086G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000515575.1:n.42+30274G>A (RPS4Y1) | |
| ENST00000652562.1:n.350-1638C>T (HSFY3P) |