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