ClinGen Evidence Repository:
Classification
Benign
Revel Score:
ENST00000226247
0.600
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00593991 (AFR)
Genomes Max Group AF
0.00574425 (AFR)
Exomes Max Group AF
0.00575545 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28535127T>A , CM000679.2:g.28535127T>A | GRCh38 |
| NC_000017.10:g.26862145T>A , CM000679.1:g.26862145T>A | GRCh37 |
| NC_000017.9:g.23886272T>A | NCBI36 |
| NG_007260.1:g.16187T>A , LRG_61:g.16187T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577936.2:c.1556T>A | ENSP00000462159.2:p.Leu519Gln | |
| ENST00000579795.6:c.1556T>A MANE Select | ENSP00000464645.1:p.Leu519Gln | |
| ENST00000226247.2:c.1556T>A | ENSP00000226247.2:p.Leu519Gln | |
| ENST00000481916.6:c.*1195+68924A>T | ENSP00000436369.2:n.*1195+68924A>T | |
| ENST00000579795.5:c.1556T>A | ENSP00000464645.1:p.Leu519Gln | |
| NM_003593.2:c.1556T>A , LRG_61t1:c.1556T>A | NP_003584.2:p.Leu519Gln | |
| XM_005258046.3:c.1556T>A | XP_005258103.1:p.Leu519Gln | |
| XM_011525354.1:c.1613T>A | XP_011523656.1:p.Leu538Gln | |
| XM_011525355.1:c.1610T>A | XP_011523657.1:p.Leu537Gln | |
| XM_011525356.1:c.1610T>A | XP_011523658.1:p.Leu537Gln | |
| XM_011525357.1:c.1592T>A | XP_011523659.1:p.Leu531Gln | |
| XM_011525358.1:c.1559T>A | XP_011523660.1:p.Leu520Gln | |
| XM_011525359.1:c.1559T>A | XP_011523661.1:p.Leu520Gln | |
| XM_011525360.1:c.1559T>A | XP_011523662.1:p.Leu520Gln | |
| XM_011525361.1:c.1556T>A | XP_011523663.1:p.Leu519Gln | |
| XM_011525362.1:c.1556T>A | XP_011523664.1:p.Leu519Gln | |
| XM_011525363.1:c.1367T>A | XP_011523665.1:p.Leu456Gln | |
| XM_011525364.1:c.1091T>A | XP_011523666.1:p.Leu364Gln | |
| XM_011525365.1:c.1192+589T>A | XP_011523667.1:n.1192+589T>A | |
| XM_011525366.1:c.1013T>A | XP_011523668.1:p.Leu338Gln | |
| XM_011525367.1:c.998T>A | XP_011523669.1:p.Leu333Gln | |
| XM_011525368.1:c.920T>A | XP_011523670.1:p.Leu307Gln | |
| XM_011525369.1:c.920T>A | XP_011523671.1:p.Leu307Gln | |
| XM_011525370.1:c.920T>A | XP_011523672.1:p.Leu307Gln | |
| XM_011525368.2:c.920T>A | XP_011523670.1:p.Leu307Gln | |
| XM_011525369.2:c.920T>A | XP_011523671.1:p.Leu307Gln | |
| XM_011525370.2:c.920T>A | XP_011523672.1:p.Leu307Gln | |
| XM_017025228.1:c.1556T>A | XP_016880717.1:p.Leu519Gln | |
| XM_017025229.1:c.1313T>A | XP_016880718.1:p.Leu438Gln | |
| XM_017025230.1:c.1138+589T>A | XP_016880719.1:n.1138+589T>A | |
| NM_001369369.1:c.1556T>A MANE Select | NP_001356298.1:p.Leu519Gln | |
| NM_003593.3:c.1556T>A | NP_003584.2:p.Leu519Gln |