Revel Score:
ENST00000237014 (MANE Select)
0.497
ENST00000432547
0.497
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Genomes Max Group AF
0.0000226 (AMR)
Exomes Max Group AF
0.00000575 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598617C>T , CM000680.2:g.31598617C>T | GRCh38 |
| NC_000018.9:g.29178580C>T , CM000680.1:g.29178580C>T | GRCh37 |
| NC_000018.8:g.27432578C>T | NCBI36 |
| NG_009490.1:g.11851C>T , LRG_416:g.11851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.386C>T MANE Select | ENSP00000237014.4:p.Ala129Val | |
| ENST00000610404.5:c.290C>T | ENSP00000477599.2:p.Ala97Val | |
| ENST00000649620.1:c.386C>T | ENSP00000497927.1:p.Ala129Val | |
| ENST00000237014.7:c.386C>T | ENSP00000237014.3:p.Ala129Val | |
| ENST00000610404.4:c.500C>T | ENSP00000477599.1:p.Ala167Val | |
| ENST00000613781.1:c.375+11C>T | ENSP00000479174.1:n.375+11C>T | |
| NM_000371.3:c.386C>T , LRG_416t1:c.386C>T | NP_000362.1:p.Ala129Val | |
| NM_000371.4:c.386C>T MANE Select | NP_000362.1:p.Ala129Val |