Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6470958C>A , CM000674.2:g.6470958C>A | GRCh38 |
| NC_000012.11:g.6580124C>A , CM000674.1:g.6580124C>A | GRCh37 |
| NC_000012.10:g.6450385C>A | NCBI36 |
| NG_042188.1:g.4942G>T | |
| NG_042188.2:g.4942G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.7:c.-427G>T (VAMP1) | ENSP00000355122.3:n.-427G>T | |
| XR_001748777.2:n.2225C>A (TAPBPL) | ||
| XR_001748778.2:n.2222C>A (TAPBPL) |