gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002315 (NFE)
Genomes Max Group AF
0.00000491 (NFE)
Exomes Max Group AF
0.00002287 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174750135C>T , CM000664.2:g.174750135C>T | GRCh38 |
| NC_000002.11:g.175614863C>T , CM000664.1:g.175614863C>T | GRCh37 |
| NC_000002.10:g.175323109C>T | NCBI36 |
| NG_008172.1:g.19338G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.324G>A | ENSP00000490338.2:p.Leu108= | |
| ENST00000672640.1:c.324G>A | ENSP00000500507.1:p.Leu108= | |
| ENST00000261007.9:c.888G>A | ENSP00000261007.5:p.Leu296= | |
| ENST00000348749.9:c.813G>A MANE Select | ENSP00000261008.5:p.Leu271= | |
| ENST00000409219.5:c.813G>A | ENSP00000386611.1:p.Leu271= | |
| ENST00000409542.5:c.567G>A | ENSP00000387026.1:p.Leu189= | |
| ENST00000435083.5:c.*457G>A | ENSP00000395805.1:n.*457G>A | |
| NM_000079.3:c.813G>A | NP_000070.1:p.Leu271= | |
| NM_001039523.2:c.888G>A | NP_001034612.1:p.Leu296= | |
| XM_017003256.1:c.909G>A | XP_016858745.1:p.Leu303= | |
| XM_017003257.1:c.834G>A | XP_016858746.1:p.Leu278= | |
| NM_000079.4:c.813G>A MANE Select | NP_000070.1:p.Leu271= | |
| NM_001039523.3:c.888G>A | NP_001034612.1:p.Leu296= |