gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70237456 (AFR)
Genomes Max Group AF
0.70237456 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78381401T>G , CM000679.2:g.78381401T>G | GRCh38 |
| NC_000017.10:g.76377482T>G , CM000679.1:g.76377482T>G | GRCh37 |
| NC_000017.9:g.73889077T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262764.11:c.143+2593T>G MANE Select | ENSP00000262764.5:n.143+2593T>G | |
| ENST00000262764.10:c.143+2593T>G | ENSP00000262764.5:n.143+2593T>G | |
| ENST00000585521.2:n.112+2593T>G | ||
| ENST00000586325.5:n.307+384T>G | ||
| ENST00000586510.6:c.144-1263T>G | ENSP00000475797.1:n.144-1263T>G | |
| ENST00000587356.1:c.131+2593T>G | ||
| ENST00000588169.5:c.143+2593T>G | ENSP00000467804.1:n.143+2593T>G | |
| ENST00000589425.5:c.143+2593T>G | ENSP00000465278.1:n.143+2593T>G | |
| ENST00000589426.5:c.143+2593T>G | ENSP00000468431.1:n.143+2593T>G | |
| ENST00000589689.5:c.143+2593T>G | ENSP00000465908.1:n.143+2593T>G | |
| ENST00000592043.5:c.139+2593T>G | ||
| NM_024419.4:c.143+2593T>G | NP_077733.3:n.143+2593T>G | |
| NR_110601.1:n.191+2593T>G | ||
| NR_110602.1:n.191+2593T>G | ||
| NR_111989.1:n.191+2593T>G | ||
| XM_011525487.1:c.413+2162T>G | XP_011523789.1:n.413+2162T>G | |
| XM_011525488.1:c.413+2162T>G | XP_011523790.1:n.413+2162T>G | |
| XM_011525489.1:c.413+2162T>G | XP_011523791.1:n.413+2162T>G | |
| XR_429930.1:n.158+2593T>G | ||
| XR_934603.1:n.413+2162T>G | ||
| XR_934604.1:n.413+2162T>G | ||
| XR_934605.1:n.413+2162T>G | ||
| XR_934606.1:n.413+2162T>G | ||
| XR_934607.1:n.413+2162T>G | ||
| XR_934608.1:n.413+2162T>G | ||
| XR_934609.1:n.413+2162T>G | ||
| XR_934610.1:n.185+2593T>G | ||
| XM_011525487.2:c.413+2162T>G | XP_011523789.1:n.413+2162T>G | |
| XM_011525488.2:c.413+2162T>G | XP_011523790.1:n.413+2162T>G | |
| XM_011525489.2:c.413+2162T>G | XP_011523791.1:n.413+2162T>G | |
| XM_017025357.1:c.413+2162T>G | XP_016880846.1:n.413+2162T>G | |
| XM_017025358.1:c.413+2162T>G | XP_016880847.1:n.413+2162T>G | |
| XM_017025359.1:c.413+2162T>G | XP_016880848.1:n.413+2162T>G | |
| XM_017025360.1:c.413+2162T>G | XP_016880849.1:n.413+2162T>G | |
| XM_017025361.2:c.143+2593T>G | XP_016880850.1:n.143+2593T>G | |
| XM_017025362.2:c.143+2593T>G | XP_016880851.1:n.143+2593T>G | |
| XM_017025364.2:c.143+2593T>G | XP_016880853.1:n.143+2593T>G | |
| XM_017025366.2:c.143+2593T>G | XP_016880855.1:n.143+2593T>G | |
| XR_001752683.1:n.566+2162T>G | ||
| XR_001752684.1:n.566+2162T>G | ||
| XR_001752685.1:n.568+2162T>G | ||
| XR_001752686.1:n.566+2162T>G | ||
| XR_001752687.2:n.186+2593T>G | ||
| XR_001752688.2:n.186+2593T>G | ||
| XR_001752689.2:n.158+2593T>G | ||
| XR_001752690.2:n.186+2593T>G | ||
| XR_001752691.2:n.186+2593T>G | ||
| XR_001752692.2:n.186+2593T>G | ||
| XR_429930.3:n.158+2593T>G | ||
| XR_934604.2:n.566+2162T>G | ||
| XR_934606.2:n.566+2162T>G | ||
| XR_934607.2:n.566+2162T>G | ||
| XR_934609.2:n.566+2162T>G | ||
| NM_024419.5:c.143+2593T>G MANE Select | NP_077733.3:n.143+2593T>G | |
| NR_110601.2:n.160+2593T>G | ||
| NR_110602.2:n.160+2593T>G | ||
| NR_111989.2:n.160+2593T>G |