dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1694149 (AFR)
Genomes Max Group AF
0.16753546 (AFR)
Exomes Max Group AF
0.17176304 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87531733T>C , CM000669.2:g.87531733T>C | GRCh38 |
| NC_000007.13:g.87161049T>C , CM000669.1:g.87161049T>C | GRCh37 |
| NC_000007.12:g.86998985T>C | NCBI36 |
| NG_011513.1:g.186516A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2482-236A>G | ENSP00000265724.3:n.2482-236A>G | |
| ENST00000622132.5:c.2482-236A>G MANE Select | ENSP00000478255.1:n.2482-236A>G | |
| ENST00000265724.7:c.2482-236A>G | ENSP00000265724.3:n.2482-236A>G | |
| ENST00000496821.5:n.110-236A>G | ||
| ENST00000543898.5:c.2290-236A>G | ENSP00000444095.1:n.2290-236A>G | |
| ENST00000622132.4:c.2482-236A>G | ENSP00000478255.1:n.2482-236A>G | |
| NM_000927.4:c.2482-236A>G | NP_000918.2:n.2482-236A>G | |
| NM_001348944.1:c.2482-236A>G | NP_001335873.1:n.2482-236A>G | |
| NM_001348945.1:c.2692-236A>G | NP_001335874.1:n.2692-236A>G | |
| NM_001348946.1:c.2482-236A>G | NP_001335875.1:n.2482-236A>G | |
| NM_001348946.2:c.2482-236A>G MANE Select | NP_001335875.1:n.2482-236A>G | |
| NM_000927.5:c.2482-236A>G | NP_000918.2:n.2482-236A>G | |
| NM_001348944.2:c.2482-236A>G | NP_001335873.1:n.2482-236A>G | |
| NM_001348945.2:c.2692-236A>G | NP_001335874.1:n.2692-236A>G |