gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50249049 (AMR)
Genomes Max Group AF
0.50249049 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59419492C>T , CM000677.2:g.59419492C>T | GRCh38 |
| NC_000015.9:g.59711691C>T , CM000677.1:g.59711691C>T | GRCh37 |
| NC_000015.8:g.57498983C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558348.5:c.-78+17134C>T | ENSP00000453918.1:n.-78+17134C>T | |
| ENST00000560394.5:c.-78+17134C>T | ENSP00000452962.1:n.-78+17134C>T | |
| XM_006720399.1:c.-78+17134C>T | XP_006720462.1:n.-78+17134C>T | |
| XM_011521248.1:c.-22+17134C>T | XP_011519550.1:n.-22+17134C>T | |
| XM_011521248.2:c.-22+17134C>T | XP_011519550.1:n.-22+17134C>T |