COSMIC:
COSM149535 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33122488 (AFR)
Genomes Max Group AF
0.32566705 (AFR)
Exomes Max Group AF
0.33490855 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186613180C>G , CM000665.2:g.186613180C>G | GRCh38 |
| NC_000003.11:g.186330969C>G , CM000665.1:g.186330969C>G | GRCh37 |
| NC_000003.10:g.187813663C>G | NCBI36 |
| NG_011436.1:g.5120C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.39C>G MANE Select | ENSP00000393887.2:p.Leu13= | |
| ENST00000273784.5:c.39C>G | ENSP00000273784.5:p.Leu13= | |
| ENST00000411641.6:c.39C>G | ENSP00000393887.2:p.Leu13= | |
| ENST00000478441.1:n.96C>G | ||
| NM_001622.2:c.39C>G | NP_001613.2:p.Leu13= | |
| NM_001354571.1:c.39C>G | NP_001341500.1:p.Leu13= | |
| NM_001354572.1:c.39C>G | NP_001341501.1:p.Leu13= | |
| NM_001354573.1:c.39C>G | NP_001341502.1:p.Leu13= | |
| NM_001622.3:c.39C>G | NP_001613.2:p.Leu13= | |
| NM_001622.4:c.39C>G MANE Select | NP_001613.2:p.Leu13= | |
| NM_001354571.2:c.39C>G | NP_001341500.1:p.Leu13= | |
| NM_001354572.2:c.39C>G | NP_001341501.1:p.Leu13= | |
| NM_001354573.2:c.39C>G | NP_001341502.1:p.Leu13= |