gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90153162 (EAS)
Genomes Max Group AF
0.90153162 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119512152A>G , CM000663.2:g.119512152A>G | GRCh38 |
| NC_000001.10:g.120054775A>G , CM000663.1:g.120054775A>G | GRCh37 |
| NC_000001.9:g.119856298A>G | NCBI36 |
| NG_050909.1:g.10041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369413.8:c.310+485A>G MANE Select | ENSP00000358421.3:n.310+485A>G | |
| ENST00000369413.7:c.310+485A>G | ENSP00000358421.3:n.310+485A>G | |
| ENST00000528909.1:c.310+485A>G | ENSP00000432268.1:n.310+485A>G | |
| NM_000862.2:c.310+485A>G | NP_000853.1:n.310+485A>G | |
| XM_011541314.1:c.316+485A>G | XP_011539616.1:n.316+485A>G | |
| NM_001328615.1:c.310+485A>G | NP_001315544.1:n.310+485A>G | |
| NM_000862.3:c.310+485A>G MANE Select | NP_000853.1:n.310+485A>G |