Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6470972G>C , CM000674.2:g.6470972G>C | GRCh38 |
| NC_000012.11:g.6580138G>C , CM000674.1:g.6580138G>C | GRCh37 |
| NC_000012.10:g.6450399G>C | NCBI36 |
| NG_042188.1:g.4928C>G | |
| NG_042188.2:g.4928C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.7:c.-441C>G (VAMP1) | ENSP00000355122.3:n.-441C>G | |
| XR_001748777.2:n.2239G>C (TAPBPL) | ||
| XR_001748778.2:n.2236G>C (TAPBPL) |