ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00298281 (AFR)
Genomes Max Group AF
0.00264718 (AFR)
Exomes Max Group AF
0.00310561 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2885418T>C , CM000673.2:g.2885418T>C | GRCh38 |
| NC_000011.9:g.2906648T>C , CM000673.1:g.2906648T>C | GRCh37 |
| NC_000011.8:g.2863224T>C | NCBI36 |
| NG_008022.1:g.5348A>G , LRG_533:g.5348A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.142+216A>G | ||
| ENST00000380725.2:c.39A>G | ENSP00000370101.1:p.Leu13= | |
| ENST00000414822.8:c.72A>G | ENSP00000413720.3:p.Leu24= | |
| ENST00000430149.3:c.72A>G | ENSP00000411552.2:p.Leu24= | |
| ENST00000440480.8:c.39A>G MANE Select | ENSP00000411257.2:p.Leu13= | |
| ENST00000647251.1:c.39A>G | ENSP00000496631.1:p.Leu13= | |
| ENST00000380725.1:c.39A>G | ENSP00000370101.1:p.Leu13= | |
| ENST00000414822.7:c.72A>G | ENSP00000413720.3:p.Leu24= | |
| ENST00000430149.2:c.72A>G | ENSP00000411552.2:p.Leu24= | |
| ENST00000440480.6:c.39A>G | ENSP00000411257.2:p.Leu13= | |
| NM_000076.2:c.72A>G , LRG_533t1:c.72A>G | NP_000067.1:p.Leu24= | |
| NM_001122630.1:c.39A>G | NP_001116102.1:p.Leu13= | |
| NM_001122631.1:c.39A>G | NP_001116103.1:p.Leu13= | |
| XM_005252732.3:c.39A>G | XP_005252789.1:p.Leu13= | |
| NM_001362474.1:c.72A>G | NP_001349403.1:p.Leu24= | |
| NM_001362475.1:c.39A>G | NP_001349404.1:p.Leu13= | |
| NM_001122630.2:c.39A>G MANE Select | NP_001116102.1:p.Leu13= | |
| NM_001122631.2:c.39A>G | NP_001116103.1:p.Leu13= | |
| NM_001362474.2:c.72A>G | NP_001349403.1:p.Leu24= | |
| NM_001362475.2:c.39A>G | NP_001349404.1:p.Leu13= |