Linked Data
dbSNP Id:
rs1565530356
gnomAD v2:
12-6580133-A-C
gnomAD v3:
12-6470967-A-C
gnomAD v4:
12-6470967-A-C
MyVariant Identifiers:
chr12:g.6580133_6580137delinsCGTTT (hg19)
chr12:g.6470967_6470971delinsCGTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6470967A>C , CM000674.2:g.6470967A>C | GRCh38 |
| NC_000012.11:g.6580133A>C , CM000674.1:g.6580133A>C | GRCh37 |
| NC_000012.10:g.6450394A>C | NCBI36 |
| NG_042188.1:g.4933T>G | |
| NG_042188.2:g.4933T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.7:c.-436T>G (VAMP1) | ENSP00000355122.3:n.-436T>G | |
| XR_001748777.2:n.2234A>C (TAPBPL) | ||
| XR_001748778.2:n.2231A>C (TAPBPL) |