| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126645162T>A , CM000668.2:g.126645162T>A | GRCh38 |
| NC_000006.11:g.126966308T>A , CM000668.1:g.126966308T>A | GRCh37 |
| NC_000006.10:g.127008001T>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000650727.1:n.1167-23289A>T | |
| ENST00000651326.1:n.694-41697A>T | |
| ENST00000652545.1:n.1477-23289A>T |