Linked Data
dbSNP Id:
rs1048811085
gnomAD v2:
12-6580124-C-T
gnomAD v3:
12-6470958-C-T
gnomAD v4:
12-6470958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6470958C>T , CM000674.2:g.6470958C>T | GRCh38 |
| NC_000012.11:g.6580124C>T , CM000674.1:g.6580124C>T | GRCh37 |
| NC_000012.10:g.6450385C>T | NCBI36 |
| NG_042188.1:g.4942G>A | |
| NG_042188.2:g.4942G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.7:c.-427G>A (VAMP1) | ENSP00000355122.3:n.-427G>A | |
| XR_001748777.2:n.2225C>T (TAPBPL) | ||
| XR_001748778.2:n.2222C>T (TAPBPL) |