COSMIC:
COSM4003724 (not active)
COSM4003725 (not active)
COSM4003726 (not active)
Revel Score:
ENST00000367475
0.313
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57609197 (AFR)
Genomes Max Group AF
0.57369459 (AFR)
Exomes Max Group AF
0.57485416 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.147359223A>G , CM000668.2:g.147359223A>G | GRCh38 |
| NC_000006.11:g.147680359A>G , CM000668.1:g.147680359A>G | GRCh37 |
| NC_000006.10:g.147722052A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367475.7:c.2397A>G | ENSP00000356445.3:p.Leu799= | |
| ENST00000443556.2:n.2786A>G | ||
| ENST00000706849.1:c.2337A>G | ENSP00000516590.1:p.Leu779= | |
| ENST00000706850.1:c.2337A>G | ENSP00000516591.1:p.Leu779= | |
| ENST00000706851.1:c.*195A>G | ENSP00000516592.1:n.*195A>G | |
| ENST00000706852.1:n.2305A>G | ||
| ENST00000706853.1:n.2305A>G | ||
| ENST00000706854.1:c.1902A>G | ENSP00000516593.1:p.Leu634= | |
| ENST00000706862.1:n.604A>G | ||
| ENST00000706863.1:n.2786A>G | ||
| ENST00000321680.11:c.2445A>G MANE Select | ENSP00000321826.6:p.Leu815= | |
| ENST00000321680.10:c.2445A>G | ENSP00000321826.6:p.Leu815= | |
| ENST00000367475.6:c.421A>G | ||
| ENST00000367480.7:c.2286A>G | ENSP00000356450.3:p.Leu762= | |
| ENST00000367481.7:c.2337A>G | ENSP00000356451.3:p.Leu779= | |
| ENST00000392291.2:c.417A>G | ENSP00000376112.2:p.Leu139= | |
| NM_001127715.2:c.2445A>G | NP_001121187.1:p.Leu815= | |
| NM_139244.4:c.2337A>G | NP_640337.3:p.Leu779= | |
| XM_006715339.1:c.2397A>G | XP_006715402.1:p.Leu799= | |
| XM_011535449.1:c.2529A>G | XP_011533751.1:p.Leu843= | |
| XM_011535450.1:c.2481A>G | XP_011533752.1:p.Leu827= | |
| XM_011535451.1:c.2421A>G | XP_011533753.1:p.Leu807= | |
| XM_011535452.1:c.1917A>G | XP_011533754.1:p.Leu639= | |
| XM_011535453.1:c.1410A>G | XP_011533755.1:p.Leu470= | |
| XR_245502.1:n.2663A>G | ||
| XR_245504.1:n.2537A>G | ||
| XR_942280.1:n.2666A>G | ||
| XR_942282.1:n.2729A>G | ||
| XR_942284.1:n.2621A>G | ||
| XM_006715339.3:c.2397A>G | XP_006715402.1:p.Leu799= | |
| XM_017010267.1:c.1833A>G | XP_016865756.1:p.Leu611= | |
| XR_001743163.2:n.2794A>G | ||
| XR_002956261.1:n.2794A>G | ||
| XR_245502.3:n.2857A>G | ||
| XR_245504.2:n.2749A>G | ||
| NM_001127715.3:c.2445A>G | NP_001121187.1:p.Leu815= | |
| NM_139244.5:c.2337A>G | NP_640337.3:p.Leu779= | |
| NM_001127715.4:c.2445A>G MANE Select | NP_001121187.1:p.Leu815= | |
| NM_001394409.1:c.2397A>G | NP_001381338.1:p.Leu799= | |
| NM_139244.6:c.2337A>G | NP_640337.3:p.Leu779= |