Linked Data
dbSNP Id:
rs1565530357
gnomAD v2:
12-6580134-G-A
gnomAD v3:
12-6470968-G-A
gnomAD v4:
12-6470968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6470968G>A , CM000674.2:g.6470968G>A | GRCh38 |
| NC_000012.11:g.6580134G>A , CM000674.1:g.6580134G>A | GRCh37 |
| NC_000012.10:g.6450395G>A | NCBI36 |
| NG_042188.1:g.4932C>T | |
| NG_042188.2:g.4932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.7:c.-437C>T (VAMP1) | ENSP00000355122.3:n.-437C>T | |
| XR_001748777.2:n.2235G>A (TAPBPL) | ||
| XR_001748778.2:n.2232G>A (TAPBPL) |