COSMIC:
COSM3763010 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71734787 (EAS)
Genomes Max Group AF
0.70910212 (EAS)
Exomes Max Group AF
0.71633829 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11831610G>C , CM000670.2:g.11831610G>C | GRCh38 |
| NC_000008.10:g.11689119G>C , CM000670.1:g.11689119G>C | GRCh37 |
| NC_000008.9:g.11726528G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530337.6:c.972G>C | ENSP00000431852.2:p.Leu324= | |
| ENST00000622850.3:c.780G>C | ENSP00000484122.1:p.Leu260= | |
| ENST00000220584.9:c.972G>C MANE Select | ENSP00000220584.4:p.Leu324= | |
| ENST00000220584.8:c.972G>C | ENSP00000220584.4:p.Leu324= | |
| ENST00000443614.6:c.843G>C | ENSP00000390367.2:p.Leu281= | |
| ENST00000446331.6:n.675G>C | ||
| ENST00000525283.5:c.*545G>C | ENSP00000433985.1:n.*545G>C | |
| ENST00000525607.5:c.*1031G>C | ENSP00000432551.1:n.*1031G>C | |
| ENST00000525777.5:c.717G>C | ENSP00000436069.1:p.Leu239= | |
| ENST00000525900.5:c.951G>C | ENSP00000434714.1:p.Leu317= | |
| ENST00000525954.5:n.1250G>C | ||
| ENST00000528643.5:c.717G>C | ENSP00000431649.1:p.Leu239= | |
| ENST00000528812.5:c.780G>C | ENSP00000431749.1:p.Leu260= | |
| ENST00000529521.1:n.234G>C | ||
| ENST00000530664.5:c.780G>C | ENSP00000432331.1:p.Leu260= | |
| ENST00000538689.4:c.780G>C | ENSP00000444248.2:p.Leu260= | |
| ENST00000615631.4:c.972G>C | ENSP00000481481.1:p.Leu324= | |
| ENST00000618539.4:c.972G>C | ENSP00000480828.1:p.Leu324= | |
| ENST00000622850.2:c.780G>C | ENSP00000484122.1:p.Leu260= | |
| ENST00000623368.3:c.780G>C | ENSP00000485229.1:p.Leu260= | |
| NM_001287742.1:c.972G>C | NP_001274671.1:p.Leu324= | |
| NM_001287743.1:c.972G>C | NP_001274672.1:p.Leu324= | |
| NM_001287744.1:c.780G>C | NP_001274673.1:p.Leu260= | |
| NM_001287745.1:c.780G>C | NP_001274674.1:p.Leu260= | |
| NM_001287747.1:c.780G>C | NP_001274676.1:p.Leu260= | |
| NM_001287748.1:c.780G>C | NP_001274677.1:p.Leu260= | |
| NM_001287749.1:c.780G>C | NP_001274678.1:p.Leu260= | |
| NM_001287750.1:c.1149G>C | NP_001274679.1:p.Leu383= | |
| NM_001287751.1:c.717G>C | NP_001274680.1:p.Leu239= | |
| NM_001287756.1:c.471G>C | NP_001274685.1:p.Leu157= | |
| NM_004462.4:c.972G>C | NP_004453.3:p.Leu324= | |
| XM_006716247.1:c.795G>C | XP_006716310.1:p.Leu265= | |
| NM_004462.5:c.972G>C MANE Select | NP_004453.3:p.Leu324= | |
| NM_001287742.2:c.972G>C | NP_001274671.1:p.Leu324= | |
| NM_001287743.2:c.972G>C | NP_001274672.1:p.Leu324= | |
| NM_001287744.2:c.780G>C | NP_001274673.1:p.Leu260= | |
| NM_001287745.2:c.780G>C | NP_001274674.1:p.Leu260= | |
| NM_001287749.2:c.780G>C | NP_001274678.1:p.Leu260= | |
| NM_001287750.2:c.1149G>C | NP_001274679.1:p.Leu383= | |
| NM_001287751.2:c.717G>C | NP_001274680.1:p.Leu239= | |
| NM_001287756.2:c.471G>C | NP_001274685.1:p.Leu157= |