gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92815357 (AFR)
Genomes Max Group AF
0.92815357 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27706992A>C , CM000673.2:g.27706992A>C | GRCh38 |
| NC_000011.9:g.27728539A>C , CM000673.1:g.27728539A>C | GRCh37 |
| NC_000011.8:g.27685115A>C | NCBI36 |
| NG_011794.1:g.20067T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314915.6:c.3+14420T>G | ENSP00000320002.6:n.3+14420T>G | |
| ENST00000395978.7:c.-22+13437T>G | ENSP00000379302.3:n.-22+13437T>G | |
| ENST00000395981.7:c.-22+13354T>G | ENSP00000379305.3:n.-22+13354T>G | |
| ENST00000525950.5:c.-22+13652T>G | ENSP00000432035.1:n.-22+13652T>G | |
| ENST00000532997.5:c.-22+12519T>G | ENSP00000435805.1:n.-22+12519T>G | |
| NM_001143805.1:c.-22+13652T>G | NP_001137277.1:n.-22+13652T>G | |
| NM_001143806.1:c.-22+13437T>G | NP_001137278.1:n.-22+13437T>G | |
| NM_001143807.1:c.-22+12519T>G | NP_001137279.1:n.-22+12519T>G | |
| NM_170731.4:c.3+14420T>G | NP_733927.1:n.3+14420T>G | |
| NM_170732.4:c.-22+13354T>G | NP_733928.1:n.-22+13354T>G | |
| NM_001143807.2:c.-22+12519T>G | NP_001137279.1:n.-22+12519T>G | |
| NM_170731.5:c.3+14420T>G | NP_733927.1:n.3+14420T>G |