gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32401797 (AFR)
Genomes Max Group AF
0.32401797 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59602560T>A , CM000682.2:g.59602560T>A | GRCh38 |
| NC_000020.10:g.58177615T>A , CM000682.1:g.58177615T>A | GRCh37 |
| NC_000020.9:g.57611010T>A | NCBI36 |
| NG_029537.1:g.30052T>A | |
| NG_029537.2:g.30052T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359926.7:c.109+24943T>A | ENSP00000353002.3:n.109+24943T>A | |
| NM_001199505.1:c.109+24943T>A | NP_001186434.1:n.109+24943T>A | |
| XM_011528525.1:c.-6+18872T>A | XP_011526827.1:n.-6+18872T>A | |
| XM_011528525.2:c.-6+18872T>A | XP_011526827.1:n.-6+18872T>A | |
| XM_017027626.2:c.-6+23107T>A | XP_016883115.1:n.-6+23107T>A | |
| XM_017027628.1:c.109+24943T>A | XP_016883117.1:n.109+24943T>A | |
| XM_017027630.1:c.-6+18872T>A | XP_016883119.1:n.-6+18872T>A |