COSMIC:
COSM5971603 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00139098 (MID)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
0.00133291 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90790723C>G , CM000677.2:g.90790723C>G | GRCh38 |
| NC_000015.9:g.91333953C>G , CM000677.1:g.91333953C>G | GRCh37 |
| NC_000015.8:g.89134957C>G | NCBI36 |
| NG_007272.1:g.78352C>G , LRG_20:g.78352C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.2898C>G MANE Select | ENSP00000347232.3:p.Leu966= | |
| ENST00000560559.2:n.1471C>G | ||
| ENST00000648453.1:c.2898C>G | ENSP00000497646.1:p.Leu966= | |
| ENST00000680772.1:c.2898C>G | ENSP00000506117.1:p.Leu966= | |
| ENST00000681142.1:c.2898C>G | ENSP00000506682.1:p.Leu966= | |
| ENST00000355112.7:c.2898C>G | ENSP00000347232.3:p.Leu966= | |
| ENST00000559724.5:c.*1822C>G | ENSP00000453359.1:n.*1822C>G | |
| ENST00000560136.5:n.924C>G | ||
| ENST00000560509.5:c.2898C>G | ENSP00000454158.1:p.Leu966= | |
| ENST00000560559.1:n.435C>G | ||
| NM_000057.3:c.2898C>G | NP_000048.1:p.Leu966= | |
| NM_001287246.1:c.2898C>G | NP_001274175.1:p.Leu966= | |
| NM_001287247.1:c.2898C>G | NP_001274176.1:p.Leu966= | |
| NM_001287248.1:c.1773C>G | NP_001274177.1:p.Leu591= | |
| XM_006720632.2:c.936C>G | XP_006720695.1:p.Leu312= | |
| XM_011521881.1:c.1584C>G | XP_011520183.1:p.Leu528= | |
| XM_011521881.2:c.1584C>G | XP_011520183.1:p.Leu528= | |
| NM_000057.4:c.2898C>G MANE Select | NP_000048.1:p.Leu966= | |
| NM_001287246.2:c.2898C>G | NP_001274175.1:p.Leu966= | |
| NM_001287247.2:c.2898C>G | NP_001274176.1:p.Leu966= | |
| NM_001287248.2:c.1773C>G | NP_001274177.1:p.Leu591= |