Revel Score:
ENST00000290866 (MANE Select)
0.450
ENST00000428043
0.450
ENST00000290863
0.450
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004348 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496400T>G , CM000679.2:g.63496400T>G | GRCh38 |
| NC_000017.10:g.61573761T>G , CM000679.1:g.61573761T>G | GRCh37 |
| NC_000017.9:g.58927493T>G | NCBI36 |
| NG_011648.1:g.24328T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3387T>G MANE Select | ENSP00000290866.4:p.Phe1129Leu | |
| ENST00000290863.10:c.1665T>G | ENSP00000290863.6:p.Phe555Leu | |
| ENST00000290866.9:c.3387T>G | ENSP00000290866.4:p.Phe1129Leu | |
| ENST00000413513.7:c.1659-398T>G | ENSP00000392247.3:n.1659-398T>G | |
| ENST00000428043.5:c.3387T>G | ENSP00000397593.2:p.Phe1129Leu | |
| ENST00000577418.5:n.397T>G | ||
| ENST00000577647.2:c.1665T>G | ENSP00000464149.1:p.Phe555Leu | |
| ENST00000578839.5:c.*1259-398T>G | ENSP00000462110.2:n.*1259-398T>G | |
| ENST00000579314.5:c.*1116T>G | ENSP00000462599.1:n.*1116T>G | |
| ENST00000579409.1:c.74T>G | ||
| ENST00000582244.1:n.261T>G | ||
| NM_000789.3:c.3387T>G | NP_000780.1:p.Phe1129Leu | |
| NM_001178057.1:c.1659-398T>G | NP_001171528.1:n.1659-398T>G | |
| NM_152830.2:c.1665T>G | NP_690043.1:p.Phe555Leu | |
| XM_005257110.1:c.2838T>G | XP_005257167.1:p.Phe946Leu | |
| XM_006721737.2:c.1725T>G | XP_006721800.2:p.Phe575Leu | |
| XM_006721737.3:c.1725T>G | XP_006721800.2:p.Phe575Leu | |
| NM_000789.4:c.3387T>G MANE Select | NP_000780.1:p.Phe1129Leu | |
| NM_001178057.2:c.1659-398T>G | NP_001171528.1:n.1659-398T>G | |
| NM_152830.3:c.1665T>G | NP_690043.1:p.Phe555Leu | |
| NM_001382700.1:c.2820T>G | NP_001369629.1:p.Phe940Leu | |
| NM_001382701.1:c.2535T>G | NP_001369630.1:p.Phe845Leu | |
| NM_001382702.1:c.1119-398T>G | NP_001369631.1:n.1119-398T>G | |
| NR_168483.1:n.1765T>G |