gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15824935C>A , CM000666.2:g.15824935C>A | GRCh38 |
| NC_000004.11:g.15826558C>A , CM000666.1:g.15826558C>A | GRCh37 |
| NC_000004.10:g.15435656C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226279.8:c.418C>A MANE Select | ENSP00000226279.2:p.Arg140= | |
| ENST00000226279.7:c.418C>A | ENSP00000226279.2:p.Arg140= | |
| ENST00000502843.5:c.363+8295C>A | ENSP00000427277.1:n.363+8295C>A | |
| ENST00000510674.1:c.100C>A | ENSP00000423047.1:p.Arg34= | |
| ENST00000511430.1:n.521C>A | ||
| NM_001775.2:c.418C>A | NP_001766.2:p.Arg140= | |
| NM_001775.3:c.418C>A | NP_001766.2:p.Arg140= | |
| NR_132660.1:n.513+8295C>A | ||
| XR_241678.1:n.535C>A | ||
| NM_001775.4:c.418C>A MANE Select | NP_001766.2:p.Arg140= | |
| NR_132660.2:n.450+8295C>A |