gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00760424 (MID)
Genomes Max Group AF
0.00165789 (NFE)
Exomes Max Group AF
0.00752806 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46729453G>A , CM000682.2:g.46729453G>A | GRCh38 |
| NC_000020.10:g.45358092G>A , CM000682.1:g.45358092G>A | GRCh37 |
| NC_000020.9:g.44791499G>A | NCBI36 |
| NG_016284.1:g.24814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.1512G>A MANE Select | ENSP00000352216.2:p.Ser504= | |
| ENST00000359271.3:c.1512G>A | ENSP00000352216.2:p.Ser504= | |
| NM_030777.3:c.1512G>A | NP_110404.1:p.Ser504= | |
| XM_011529060.1:c.1575G>A | XP_011527362.1:p.Ser525= | |
| XM_011529061.1:c.1521G>A | XP_011527363.1:p.Ser507= | |
| XM_011529062.1:c.1523+2467G>A | XP_011527364.1:n.1523+2467G>A | |
| XM_011529065.1:c.1474+2467G>A | XP_011527367.1:n.1474+2467G>A | |
| XR_936641.1:n.1760G>A | ||
| XM_011529060.2:c.1575G>A | XP_011527362.1:p.Ser525= | |
| XM_011529061.2:c.1521G>A | XP_011527363.1:p.Ser507= | |
| XM_011529062.2:c.1523+2467G>A | XP_011527364.1:n.1523+2467G>A | |
| XM_011529065.2:c.1474+2467G>A | XP_011527367.1:n.1474+2467G>A | |
| XM_017028087.2:c.1411+2467G>A | XP_016883576.1:n.1411+2467G>A | |
| XR_936641.2:n.1747G>A | ||
| NM_030777.4:c.1512G>A MANE Select | NP_110404.1:p.Ser504= |