Linked Data
dbSNP Id:
rs1350253905
gnomAD v3:
6-32634251-A-AAAAAAAAAAAAAAG
gnomAD v4:
6-32634251-A-AAAAAAAAAAAAAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32634251_32634252insAAAAAAAAAAAAAG , CM000668.2:g.32634251_32634252insAAAAAAAAAAAAAG | GRCh38 |
| NC_000006.11:g.32602028_32602029insAAAAAAAAAAAAAG , CM000668.1:g.32602028_32602029insAAAAAAAAAAAAAG | GRCh37 |
| NC_000006.10:g.32710006_32710007insAAAAAAAAAAAAAG | NCBI36 |
| NG_032876.1:g.1846_1847insAAAAAAAAAAAAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422863.1:c.-39+1342_-39+1343insAAAAAAAAAAAAAG | ENSP00000405797.1:n.-39+1342_-39+1343insAAAAAAAAAAAAAG |