| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2800415T>A , CM000686.2:g.2800415T>A | GRCh38 |
| NC_000024.9:g.2668456T>A , CM000686.1:g.2668456T>A | GRCh37 |
| NC_000024.8:g.2728456T>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000679518.1:n.106+25676T>A | |
| ENST00000681787.1:n.106+25676T>A | |
| ENST00000681940.1:n.106+25676T>A |