Revel Score:
ENST00000393302
0.984
ENST00000227266 (MANE Select)
0.984
gnomAD v4:
Joint Max Group AF
0.00000445 (AFR)
Exomes Max Group AF
0.00001006 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88300532T>A , CM000673.2:g.88300532T>A | GRCh38 |
| NC_000011.9:g.88033700T>A , CM000673.1:g.88033700T>A | GRCh37 |
| NC_000011.8:g.87673348T>A | NCBI36 |
| NG_007952.1:g.42242A>T , LRG_50:g.42242A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.755A>T MANE Select | ENSP00000227266.4:p.Gln252Leu | |
| ENST00000527018.6:c.755A>T | ENSP00000432556.2:p.Gln252Leu | |
| ENST00000533897.2:n.803A>T | ||
| ENST00000676612.1:c.*562A>T | ENSP00000504440.1:n.*562A>T | |
| ENST00000677208.1:c.*261A>T | ENSP00000504347.1:n.*261A>T | |
| ENST00000677661.1:c.*432A>T | ENSP00000503323.1:n.*432A>T | |
| ENST00000677802.1:c.*432A>T | ENSP00000504115.1:n.*432A>T | |
| ENST00000678065.1:n.315A>T | ||
| ENST00000678395.1:c.*261A>T | ENSP00000503123.1:n.*261A>T | |
| ENST00000678464.1:c.755A>T | ENSP00000503046.1:p.Gln252Leu | |
| ENST00000678506.1:c.716A>T | ENSP00000503580.1:p.Gln239Leu | |
| ENST00000678520.1:c.*406A>T | ENSP00000503361.1:n.*406A>T | |
| ENST00000678554.1:c.755A>T | ENSP00000504541.1:p.Gln252Leu | |
| ENST00000678915.1:c.755A>T | ENSP00000504805.1:p.Gln252Leu | |
| ENST00000679224.1:c.392A>T | ENSP00000504475.1:p.Gln131Leu | |
| ENST00000227266.9:c.755A>T | ENSP00000227266.4:p.Gln252Leu | |
| ENST00000527018.5:c.625A>T | ||
| NM_001814.4:c.755A>T , LRG_50t1:c.755A>T | NP_001805.3:p.Gln252Leu | |
| NM_001814.5:c.755A>T | NP_001805.3:p.Gln252Leu | |
| NM_001814.6:c.755A>T MANE Select | NP_001805.4:p.Gln252Leu |