gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2301861 (AFR)
Genomes Max Group AF
0.2301861 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3400902T>C , CM000682.2:g.3400902T>C | GRCh38 |
| NC_000020.10:g.3381549T>C , CM000682.1:g.3381549T>C | GRCh37 |
| NC_000020.9:g.3329549T>C | NCBI36 |
| NG_031974.1:g.11761A>G | |
| NG_031974.2:g.11761A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252032.10:c.83+6573A>G MANE Select | ENSP00000252032.9:n.83+6573A>G | |
| ENST00000252032.9:c.83+6573A>G | ENSP00000252032.9:n.83+6573A>G | |
| NM_001009984.2:c.83+6573A>G | NP_001009984.1:n.83+6573A>G | |
| XM_005260684.2:c.83+6573A>G | XP_005260741.1:n.83+6573A>G | |
| XM_005260686.2:c.83+6573A>G | XP_005260743.1:n.83+6573A>G | |
| XM_006723556.2:c.83+6573A>G | XP_006723619.1:n.83+6573A>G | |
| XM_005260684.4:c.83+6573A>G | XP_005260741.1:n.83+6573A>G | |
| XR_001754226.2:n.186+6573A>G | ||
| XR_001754227.1:n.188+6573A>G | ||
| NM_001009984.3:c.83+6573A>G MANE Select | NP_001009984.1:n.83+6573A>G |