gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26314633 (NFE)
Genomes Max Group AF
0.26314633 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35766564C>T , CM000671.2:g.35766564C>T | GRCh38 |
| NC_000009.11:g.35766561C>T , CM000671.1:g.35766561C>T | GRCh37 |
| NC_000009.10:g.35756561C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005251479.3:c.-642-5599C>T | XP_005251536.1:n.-642-5599C>T | |
| XM_011517889.1:c.-1440-5599C>T | XP_011516191.1:n.-1440-5599C>T | |
| XM_011517890.1:c.-1227+9367C>T | XP_011516192.1:n.-1227+9367C>T | |
| XM_011517891.1:c.-1135-5599C>T | XP_011516193.1:n.-1135-5599C>T | |
| XM_011517892.1:c.-1307-5599C>T | XP_011516194.1:n.-1307-5599C>T | |
| XM_011517893.1:c.-1440-5599C>T | XP_011516195.1:n.-1440-5599C>T | |
| XM_011517894.1:c.-1227+9703C>T | XP_011516196.1:n.-1227+9703C>T |