gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37909833 (EAS)
Genomes Max Group AF
0.37909833 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43936773C>G , CM000684.2:g.43936773C>G | GRCh38 |
| NC_000022.10:g.44332653C>G , CM000684.1:g.44332653C>G | GRCh37 |
| NC_000022.9:g.42663986C>G | NCBI36 |
| NG_008631.1:g.18035C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.758-278C>G MANE Select | ENSP00000216180.3:n.758-278C>G | |
| ENST00000216180.7:c.758-278C>G | ENSP00000216180.3:n.758-278C>G | |
| ENST00000406117.6:c.*390-278C>G | ENSP00000384668.2:n.*390-278C>G | |
| ENST00000423180.2:c.746-278C>G | ENSP00000397987.2:n.746-278C>G | |
| ENST00000497129.1:n.143-278C>G | ||
| NM_025225.2:c.758-278C>G | NP_079501.2:n.758-278C>G | |
| NM_025225.3:c.758-278C>G MANE Select | NP_079501.2:n.758-278C>G |