Linked Data
gnomAD v4:
12-6470973-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6470973T>C , CM000674.2:g.6470973T>C | GRCh38 |
| NC_000012.11:g.6580139T>C , CM000674.1:g.6580139T>C | GRCh37 |
| NC_000012.10:g.6450400T>C | NCBI36 |
| NG_042188.1:g.4927A>G | |
| NG_042188.2:g.4927A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.7:c.-442A>G (VAMP1) | ENSP00000355122.3:n.-442A>G | |
| XR_001748777.2:n.2240T>C (TAPBPL) | ||
| XR_001748778.2:n.2237T>C (TAPBPL) |