gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27625718 (AFR)
Genomes Max Group AF
0.27625718 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115288135G>A , CM000671.2:g.115288135G>A | GRCh38 |
| NC_000009.11:g.118050414G>A , CM000671.1:g.118050414G>A | GRCh37 |
| NC_000009.10:g.117090235G>A | NCBI36 |
| NG_027530.1:g.151318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374016.5:c.-307-3647G>A | ENSP00000363128.1:n.-307-3647G>A | |
| NM_017418.2:c.-307-3647G>A | NP_059114.1:n.-307-3647G>A | |
| XM_011518753.1:c.-307-3647G>A | XP_011517055.1:n.-307-3647G>A | |
| NR_163556.1:n.213-3647G>A |