Linked Data
gnomAD v4:
12-6470984-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6470984T>G , CM000674.2:g.6470984T>G | GRCh38 |
| NC_000012.11:g.6580150T>G , CM000674.1:g.6580150T>G | GRCh37 |
| NC_000012.10:g.6450411T>G | NCBI36 |
| NG_042188.1:g.4916A>C | |
| NG_042188.2:g.4916A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.7:c.-453A>C (VAMP1) | ENSP00000355122.3:n.-453A>C | |
| XR_001748777.2:n.2251T>G (TAPBPL) | ||
| XR_001748778.2:n.2248T>G (TAPBPL) |