Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.18997169A>C , CM000686.2:g.18997169A>C | GRCh38 |
| NC_000024.9:g.21159055A>C , CM000686.1:g.21159055A>C | GRCh37 |
| NC_000024.8:g.19618443A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125733.1:n.579-63694T>G | ||
| NR_125734.1:n.578+71555T>G | ||
| NR_125735.1:n.503+79876T>G | ||
| NR_125736.1:n.138+71555T>G | ||
| NR_125737.1:n.139-64328T>G | ||
| NR_001543.4:n.504-64328T>G | ||
| NR_125737.2:n.139-64328T>G | ||
| NR_158640.1:n.152+76330T>G | ||
| NR_158641.1:n.368+47373T>G |