Linked Data
gnomAD v4:
12-6470983-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6470983G>T , CM000674.2:g.6470983G>T | GRCh38 |
| NC_000012.11:g.6580149G>T , CM000674.1:g.6580149G>T | GRCh37 |
| NC_000012.10:g.6450410G>T | NCBI36 |
| NG_042188.1:g.4917C>A | |
| NG_042188.2:g.4917C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.7:c.-452C>A (VAMP1) | ENSP00000355122.3:n.-452C>A | |
| XR_001748777.2:n.2250G>T (TAPBPL) | ||
| XR_001748778.2:n.2247G>T (TAPBPL) |