Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2790230G>A , CM000686.2:g.2790230G>A | GRCh38 |
| NC_000024.9:g.2658271G>A , CM000686.1:g.2658271G>A | GRCh37 |
| NC_000024.8:g.2718271G>A | NCBI36 |
| NG_011751.1:g.2522C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000454281.1:n.404G>A | |
| ENST00000679518.1:n.106+15491G>A | |
| ENST00000680285.1:n.801G>A | |
| ENST00000681787.1:n.106+15491G>A | |
| ENST00000681940.1:n.106+15491G>A |