gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012313 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00012445 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46729405C>T , CM000682.2:g.46729405C>T | GRCh38 |
| NC_000020.10:g.45358044C>T , CM000682.1:g.45358044C>T | GRCh37 |
| NC_000020.9:g.44791451C>T | NCBI36 |
| NG_016284.1:g.24766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.1464C>T MANE Select | ENSP00000352216.2:p.Leu488= | |
| ENST00000359271.3:c.1464C>T | ENSP00000352216.2:p.Leu488= | |
| NM_030777.3:c.1464C>T | NP_110404.1:p.Leu488= | |
| XM_011529060.1:c.1527C>T | XP_011527362.1:p.Leu509= | |
| XM_011529061.1:c.1473C>T | XP_011527363.1:p.Leu491= | |
| XM_011529062.1:c.1523+2419C>T | XP_011527364.1:n.1523+2419C>T | |
| XM_011529065.1:c.1474+2419C>T | XP_011527367.1:n.1474+2419C>T | |
| XR_936641.1:n.1712C>T | ||
| XM_011529060.2:c.1527C>T | XP_011527362.1:p.Leu509= | |
| XM_011529061.2:c.1473C>T | XP_011527363.1:p.Leu491= | |
| XM_011529062.2:c.1523+2419C>T | XP_011527364.1:n.1523+2419C>T | |
| XM_011529065.2:c.1474+2419C>T | XP_011527367.1:n.1474+2419C>T | |
| XM_017028087.2:c.1411+2419C>T | XP_016883576.1:n.1411+2419C>T | |
| XR_936641.2:n.1699C>T | ||
| NM_030777.4:c.1464C>T MANE Select | NP_110404.1:p.Leu488= |