Linked Data
dbSNP Id:
rs1184976717
gnomAD v3:
12-56041722-A-AGGGGGGGGGGG
gnomAD v4:
12-56041722-A-AGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041728_56041729insGGGGGGGGGGG , CM000674.2:g.56041728_56041729insGGGGGGGGGGG | GRCh38 |
| NC_000012.11:g.56435512_56435513insGGGGGGGGGGG , CM000674.1:g.56435512_56435513insGGGGGGGGGGG | GRCh37 |
| NC_000012.10:g.54721779_54721780insGGGGGGGGGGG | NCBI36 |
| NG_023201.1:g.4827_4828insGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-83_-356-82insGGGGGGGGGGG | ENSP00000348849.5:n.-356-83_-356-82insGGGGGGGGGGG | |
| XR_944989.3:n.281_282insCCCCCCCCCCC | ||
| XR_944990.3:n.281_282insCCCCCCCCCCC |