gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00370733 (NFE)
Genomes Max Group AF
0.00307779 (NFE)
Exomes Max Group AF
0.00372647 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174753626G>A , CM000664.2:g.174753626G>A | GRCh38 |
| NC_000002.11:g.175618354G>A , CM000664.1:g.175618354G>A | GRCh37 |
| NC_000002.10:g.175326600G>A | NCBI36 |
| NG_008172.1:g.15847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.166C>T | ENSP00000490338.2:p.Leu56= | |
| ENST00000672640.1:c.166C>T | ENSP00000500507.1:p.Leu56= | |
| ENST00000261007.9:c.730C>T | ENSP00000261007.5:p.Leu244= | |
| ENST00000348749.9:c.655C>T MANE Select | ENSP00000261008.5:p.Leu219= | |
| ENST00000409219.5:c.655C>T | ENSP00000386611.1:p.Leu219= | |
| ENST00000409323.1:c.655C>T | ENSP00000386684.1:p.Leu219= | |
| ENST00000409542.5:c.409C>T | ENSP00000387026.1:p.Leu137= | |
| ENST00000435083.5:c.*299C>T | ENSP00000395805.1:n.*299C>T | |
| NM_000079.3:c.655C>T | NP_000070.1:p.Leu219= | |
| NM_001039523.2:c.730C>T | NP_001034612.1:p.Leu244= | |
| XM_017003256.1:c.751C>T | XP_016858745.1:p.Leu251= | |
| XM_017003257.1:c.676C>T | XP_016858746.1:p.Leu226= | |
| NM_000079.4:c.655C>T MANE Select | NP_000070.1:p.Leu219= | |
| NM_001039523.3:c.730C>T | NP_001034612.1:p.Leu244= |