Linked Data
dbSNP Id:
rs749326288
gnomAD v2:
16-89681120-G-A
gnomAD v3:
16-89614712-G-A
gnomAD v4:
16-89614712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89614712G>A , CM000678.2:g.89614712G>A | GRCh38 |
| NC_000016.9:g.89681120G>A , CM000678.1:g.89681120G>A | GRCh37 |
| NC_000016.8:g.88208621G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690203.1:c.-107+993G>A MANE Select | ENSP00000508584.1:n.-107+993G>A | |
| ENST00000421184.5:c.-107+1308G>A | ENSP00000397313.1:n.-107+1308G>A | |
| ENST00000564281.5:n.47+993G>A | ||
| ENST00000565249.5:n.171+993G>A | ||
| ENST00000570029.5:c.-107+1308G>A | ENSP00000455916.1:n.-107+1308G>A | |
| NM_001128141.2:c.-107+1308G>A | NP_001121613.1:n.-107+1308G>A | |
| XM_005256285.3:c.-107+993G>A | XP_005256342.1:n.-107+993G>A | |
| XM_011522926.1:c.-107+993G>A | XP_011521228.1:n.-107+993G>A | |
| XM_005256285.5:c.-107+993G>A | XP_005256342.1:n.-107+993G>A | |
| NM_001128141.3:c.-107+1308G>A | NP_001121613.1:n.-107+1308G>A | |
| NM_001389466.1:c.-107+993G>A MANE Select | NP_001376395.1:n.-107+993G>A | |
| NM_001389470.1:c.-107+993G>A | NP_001376399.1:n.-107+993G>A |