Linked Data
dbSNP Id:
rs576149848
gnomAD v2:
16-89681060-G-C
gnomAD v3:
16-89614652-G-C
gnomAD v4:
16-89614652-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89614652G>C , CM000678.2:g.89614652G>C | GRCh38 |
| NC_000016.9:g.89681060G>C , CM000678.1:g.89681060G>C | GRCh37 |
| NC_000016.8:g.88208561G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690203.1:c.-107+933G>C MANE Select | ENSP00000508584.1:n.-107+933G>C | |
| ENST00000421184.5:c.-107+1248G>C | ENSP00000397313.1:n.-107+1248G>C | |
| ENST00000564281.5:n.47+933G>C | ||
| ENST00000565249.5:n.171+933G>C | ||
| ENST00000570029.5:c.-107+1248G>C | ENSP00000455916.1:n.-107+1248G>C | |
| NM_001128141.2:c.-107+1248G>C | NP_001121613.1:n.-107+1248G>C | |
| XM_005256285.3:c.-107+933G>C | XP_005256342.1:n.-107+933G>C | |
| XM_011522926.1:c.-107+933G>C | XP_011521228.1:n.-107+933G>C | |
| XM_005256285.5:c.-107+933G>C | XP_005256342.1:n.-107+933G>C | |
| NM_001128141.3:c.-107+1248G>C | NP_001121613.1:n.-107+1248G>C | |
| NM_001389466.1:c.-107+933G>C MANE Select | NP_001376395.1:n.-107+933G>C | |
| NM_001389470.1:c.-107+933G>C | NP_001376399.1:n.-107+933G>C |