Revel Score:
ENST00000503569
0.701
ENST00000226760 (MANE Select)
0.701
ENST00000540337
0.701
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302371G>T , CM000666.2:g.6302371G>T | GRCh38 |
| NC_000004.11:g.6304098G>T , CM000666.1:g.6304098G>T | GRCh37 |
| NC_000004.10:g.6354999G>T | NCBI36 |
| NG_011700.1:g.37522G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2612G>T | ENSP00000507852.1:p.Arg871Leu | |
| ENST00000683395.1:c.2553G>T | ||
| ENST00000684087.1:c.2576G>T | ENSP00000506978.1:p.Arg859Leu | |
| ENST00000506362.2:c.2327G>T | ENSP00000424103.2:p.Arg776Leu | |
| ENST00000673991.1:c.2612G>T | ENSP00000501033.1:p.Arg871Leu | |
| ENST00000226760.5:c.2576G>T MANE Select | ENSP00000226760.1:p.Arg859Leu | |
| ENST00000503569.5:c.2576G>T | ENSP00000423337.1:p.Arg859Leu | |
| ENST00000507765.1:n.2761G>T | ||
| NM_001145853.1:c.2576G>T | NP_001139325.1:p.Arg859Leu | |
| NM_006005.3:c.2576G>T MANE Select | NP_005996.2:p.Arg859Leu | |
| XM_017008586.1:c.2585G>T | XP_016864075.1:p.Arg862Leu |