Revel Score:
ENST00000503569
0.301
ENST00000226760 (MANE Select)
0.301
ENST00000506362
0.160
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00090268 (SAS)
Genomes Max Group AF
0.00014676 (NFE)
Exomes Max Group AF
0.00093244 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6295056C>T , CM000666.2:g.6295056C>T | GRCh38 |
| NC_000004.11:g.6296783C>T , CM000666.1:g.6296783C>T | GRCh37 |
| NC_000004.10:g.6347684C>T | NCBI36 |
| NG_011700.1:g.30207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.764C>T | ENSP00000507852.1:p.Ala255Val | |
| ENST00000683395.1:c.705C>T | ||
| ENST00000684087.1:c.728C>T | ENSP00000506978.1:p.Ala243Val | |
| ENST00000506362.2:c.479C>T | ENSP00000424103.2:p.Ala160Val | |
| ENST00000673642.1:c.527C>T | ENSP00000501242.1:p.Ala176Val | |
| ENST00000673991.1:c.764C>T | ENSP00000501033.1:p.Ala255Val | |
| ENST00000226760.5:c.728C>T MANE Select | ENSP00000226760.1:p.Ala243Val | |
| ENST00000503569.5:c.728C>T | ENSP00000423337.1:p.Ala243Val | |
| ENST00000506362.1:c.361C>T | ||
| ENST00000507765.1:n.913C>T | ||
| ENST00000513395.1:n.286C>T | ||
| NM_001145853.1:c.728C>T | NP_001139325.1:p.Ala243Val | |
| NM_006005.3:c.728C>T MANE Select | NP_005996.2:p.Ala243Val | |
| XM_017008586.1:c.737C>T | XP_016864075.1:p.Ala246Val |