Linked Data
dbSNP Id:
rs16965867
gnomAD v2:
16-89680868-C-T
gnomAD v3:
16-89614460-C-T
gnomAD v4:
16-89614460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89614460C>T , CM000678.2:g.89614460C>T | GRCh38 |
| NC_000016.9:g.89680868C>T , CM000678.1:g.89680868C>T | GRCh37 |
| NC_000016.8:g.88208369C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000690203.1:c.-107+741C>T MANE Select | ENSP00000508584.1:n.-107+741C>T | |
| ENST00000421184.5:c.-107+1056C>T | ENSP00000397313.1:n.-107+1056C>T | |
| ENST00000564281.5:n.47+741C>T | ||
| ENST00000565249.5:n.171+741C>T | ||
| ENST00000570029.5:c.-107+1056C>T | ENSP00000455916.1:n.-107+1056C>T | |
| NM_001128141.2:c.-107+1056C>T | NP_001121613.1:n.-107+1056C>T | |
| XM_005256285.3:c.-107+741C>T | XP_005256342.1:n.-107+741C>T | |
| XM_011522926.1:c.-107+741C>T | XP_011521228.1:n.-107+741C>T | |
| XM_005256285.5:c.-107+741C>T | XP_005256342.1:n.-107+741C>T | |
| NM_001128141.3:c.-107+1056C>T | NP_001121613.1:n.-107+1056C>T | |
| NM_001389466.1:c.-107+741C>T MANE Select | NP_001376395.1:n.-107+741C>T | |
| NM_001389470.1:c.-107+741C>T | NP_001376399.1:n.-107+741C>T |