Linked Data
dbSNP Id:
rs1418346385
gnomAD v2:
3-184971957-C-CCCTCA
gnomAD v3:
3-185254169-C-CCCTCA
gnomAD v4:
3-185254169-C-CCCTCA
MyVariant Identifiers:
chr3:g.184971957_184971958insCCTCA (hg19)
chr3:g.185254169_185254170insCCTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185254173_185254174insACCTC , CM000665.2:g.185254173_185254174insACCTC | GRCh38 |
| NC_000003.11:g.184971961_184971962insACCTC , CM000665.1:g.184971961_184971962insACCTC | GRCh37 |
| NC_000003.10:g.186454655_186454656insACCTC | NCBI36 |
| NG_015999.1:g.4929_4930insTGAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465178.1:n.228-5653_228-5652insTGAGG | ||
| XM_011512517.1:c.-214-5653_-214-5652insTGAGG | XP_011510819.1:n.-214-5653_-214-5652insTGAGG |