Revel Score:
ENST00000538683
0.222
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14152376T>A , CM000665.2:g.14152376T>A | GRCh38 |
| NC_000003.11:g.14193876T>A , CM000665.1:g.14193876T>A | GRCh37 |
| NC_000003.10:g.14168877T>A | NCBI36 |
| NG_011763.1:g.31297A>T , LRG_472:g.31297A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2074A>T MANE Select | ENSP00000285021.8:p.Lys692Ter | |
| ENST00000285021.11:c.2074A>T | ENSP00000285021.7:p.Lys692Ter | |
| ENST00000476581.6:c.*1527A>T | ENSP00000424548.1:n.*1527A>T | |
| NM_004628.4:c.2074A>T , LRG_472t1:c.2074A>T | NP_004619.3:p.Lys692Ter | |
| NR_027299.1:n.2054A>T | ||
| XM_011534092.1:c.2074A>T | XP_011532394.1:p.Lys692Ter | |
| NM_001354726.1:c.1495A>T | NP_001341655.1:p.Lys499Ter | |
| NM_001354727.1:c.2068A>T | NP_001341656.1:p.Lys690Ter | |
| NM_001354729.1:c.2056A>T | NP_001341658.1:p.Lys686Ter | |
| NM_001354730.1:c.1828A>T | NP_001341659.1:p.Lys610Ter | |
| NR_148950.1:n.2017A>T | ||
| NR_148951.1:n.1893A>T | ||
| XR_001740256.2:n.2107A>T | ||
| XR_002959580.1:n.2107A>T | ||
| XR_002959581.1:n.3724A>T | ||
| NM_001354727.2:c.2068A>T | NP_001341656.1:p.Lys690Ter | |
| NM_004628.5:c.2074A>T MANE Select | NP_004619.3:p.Lys692Ter | |
| NR_148950.2:n.1946A>T | ||
| NR_148951.2:n.1822A>T | ||
| NM_001354726.2:c.1495A>T | NP_001341655.1:p.Lys499Ter | |
| NM_001354729.2:c.2056A>T | NP_001341658.1:p.Lys686Ter | |
| NM_001354730.2:c.1828A>T | NP_001341659.1:p.Lys610Ter |