gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63890927 (SAS)
Genomes Max Group AF
0.62888173 (SAS)
Exomes Max Group AF
0.63770859 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43826927A>C , CM000684.2:g.43826927A>C | GRCh38 |
| NC_000022.10:g.44222807A>C , CM000684.1:g.44222807A>C | GRCh37 |
| NC_000022.9:g.42554140A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330884.9:c.743-814T>G MANE Select | ENSP00000332565.4:n.743-814T>G | |
| ENST00000330884.8:c.743-814T>G | ENSP00000332565.4:n.743-814T>G | |
| ENST00000422525.1:c.*86+587T>G | ENSP00000388285.1:n.*86+587T>G | |
| ENST00000432404.5:c.*384-814T>G | ENSP00000414220.1:n.*384-814T>G | |
| NM_014351.3:c.743-814T>G | NP_055166.1:n.743-814T>G | |
| XM_011530121.1:c.404-814T>G | XP_011528423.1:n.404-814T>G | |
| XR_937838.1:n.919+587T>G | ||
| XM_024452212.1:c.506-814T>G | XP_024307980.1:n.506-814T>G | |
| XR_001755207.1:n.2338+587T>G | ||
| XR_937838.2:n.919+587T>G | ||
| NM_014351.4:c.743-814T>G MANE Select | NP_055166.1:n.743-814T>G |