Linked Data
dbSNP Id:
rs1039854362
gnomAD v2:
3-186561461-A-AG
gnomAD v3:
3-186843672-A-AG
gnomAD v4:
3-186843672-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186843672_186843673insG , CM000665.2:g.186843672_186843673insG | GRCh38 |
| NC_000003.11:g.186561461_186561462insG , CM000665.1:g.186561461_186561462insG | GRCh37 |
| NC_000003.10:g.188044155_188044156insG | NCBI36 |
| NG_021140.1:g.5999_6000insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320741.7:c.-9+923_-9+924insG MANE Select | ENSP00000320709.2:n.-9+923_-9+924insG | |
| ENST00000320741.6:c.-9+923_-9+924insG | ENSP00000320709.2:n.-9+923_-9+924insG | |
| ENST00000444204.2:c.-60+923_-60+924insG | ENSP00000389814.2:n.-60+923_-60+924insG | |
| NM_001177800.1:c.-60+923_-60+924insG | NP_001171271.1:n.-60+923_-60+924insG | |
| NM_004797.3:c.-9+923_-9+924insG | NP_004788.1:n.-9+923_-9+924insG | |
| XM_011513324.1:c.-125+923_-125+924insG | XP_011511626.1:n.-125+923_-125+924insG | |
| NM_004797.4:c.-9+923_-9+924insG MANE Select | NP_004788.1:n.-9+923_-9+924insG | |
| NM_001177800.2:c.-60+923_-60+924insG | NP_001171271.1:n.-60+923_-60+924insG |