gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000027 (EAS)
Genomes Max Group AF
0.00002624 (NFE)
Exomes Max Group AF
0.00003042 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010167A>C , CM000685.2:g.25010167A>C | GRCh38 |
| NC_000023.10:g.25028284A>C , CM000685.1:g.25028284A>C | GRCh37 |
| NC_000023.9:g.24938205A>C | NCBI36 |
| NG_008281.1:g.10782T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1119+93T>G MANE Select | ENSP00000368332.4:n.1119+93T>G | |
| ENST00000379044.4:c.1119+93T>G | ENSP00000368332.4:n.1119+93T>G | |
| NM_139058.2:c.1119+93T>G | NP_620689.1:n.1119+93T>G | |
| NM_139058.3:c.1119+93T>G MANE Select | NP_620689.1:n.1119+93T>G |