Revel Score:
ENST00000237014 (MANE Select)
0.533
ENST00000432547
0.533
ENST00000541025
0.533
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043638 (AFR)
Genomes Max Group AF
0.00039781 (AFR)
Exomes Max Group AF
0.0003711 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31593016T>C , CM000680.2:g.31593016T>C | GRCh38 |
| NC_000018.9:g.29172979T>C , CM000680.1:g.29172979T>C | GRCh37 |
| NC_000018.8:g.27426977T>C | NCBI36 |
| NG_009490.1:g.6250T>C , LRG_416:g.6250T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.190T>C MANE Select | ENSP00000237014.4:p.Phe64Leu | |
| ENST00000610404.5:c.94T>C | ENSP00000477599.2:p.Phe32Leu | |
| ENST00000649620.1:c.190T>C | ENSP00000497927.1:p.Phe64Leu | |
| ENST00000237014.7:c.190T>C | ENSP00000237014.3:p.Phe64Leu | |
| ENST00000432547.7:n.216T>C | ||
| ENST00000541025.2:n.216T>C | ||
| ENST00000610404.4:c.190T>C | ENSP00000477599.1:p.Phe64Leu | |
| ENST00000613781.1:c.190T>C | ENSP00000479174.1:p.Phe64Leu | |
| NM_000371.3:c.190T>C , LRG_416t1:c.190T>C | NP_000362.1:p.Phe64Leu | |
| NM_000371.4:c.190T>C MANE Select | NP_000362.1:p.Phe64Leu |