Revel Score:
ENST00000314067 (MANE Select)
0.055
ENST00000238628
0.055
ENST00000556742
0.055
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75985798G>T , CM000676.2:g.75985798G>T | GRCh38 |
| NC_000014.8:g.76452141G>T , CM000676.1:g.76452141G>T | GRCh37 |
| NC_000014.7:g.75521894G>T | NCBI36 |
| NG_011715.1:g.952C>A , LRG_399:g.952C>A | |
| NG_031957.1:g.5046G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314067.11:c.12G>T MANE Select | ENSP00000324177.6:p.Leu4Phe | |
| ENST00000679083.1:c.-235G>T | ENSP00000504736.1:n.-235G>T | |
| ENST00000238628.10:c.12G>T | ENSP00000238628.6:p.Leu4Phe | |
| ENST00000314067.10:c.12G>T | ENSP00000324177.6:p.Leu4Phe | |
| ENST00000542766.5:c.12G>T | ENSP00000440064.1:p.Leu4Phe | |
| ENST00000553338.1:n.5G>T | ||
| ENST00000554026.5:n.19G>T | ||
| ENST00000555305.5:n.19G>T | ||
| ENST00000555370.5:c.12G>T | ENSP00000452051.1:p.Leu4Phe | |
| ENST00000555677.5:n.90-3087G>T | ||
| ENST00000556742.1:c.12G>T | ENSP00000451096.1:p.Leu4Phe | |
| NM_001102564.1:c.12G>T | NP_001096034.1:p.Leu4Phe | |
| NM_001255995.1:c.12G>T | NP_001242924.1:p.Leu4Phe | |
| NM_052873.2:c.12G>T | NP_443105.2:p.Leu4Phe | |
| NR_045664.1:n.46G>T | ||
| NR_045665.1:n.46G>T | ||
| NM_001102564.2:c.12G>T | NP_001096034.1:p.Leu4Phe | |
| NM_001255995.2:c.12G>T | NP_001242924.1:p.Leu4Phe | |
| NM_052873.3:c.12G>T | NP_443105.2:p.Leu4Phe | |
| NM_001102564.3:c.12G>T MANE Select | NP_001096034.1:p.Leu4Phe | |
| NM_001255995.3:c.12G>T | NP_001242924.1:p.Leu4Phe | |
| NR_045664.2:n.36G>T | ||
| NR_045665.2:n.36G>T |