Revel Score:
ENST00000503569
0.627
ENST00000226760 (MANE Select)
0.627
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00460378 (EAS)
Genomes Max Group AF
0.00038079 (EAS)
Exomes Max Group AF
0.00508398 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301029G>C , CM000666.2:g.6301029G>C | GRCh38 |
| NC_000004.11:g.6302756G>C , CM000666.1:g.6302756G>C | GRCh37 |
| NC_000004.10:g.6353657G>C | NCBI36 |
| NG_011700.1:g.36180G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1270G>C | ENSP00000507852.1:p.Val424Leu | |
| ENST00000683395.1:c.1211G>C | ||
| ENST00000684087.1:c.1234G>C | ENSP00000506978.1:p.Val412Leu | |
| ENST00000506362.2:c.985G>C | ENSP00000424103.2:p.Val329Leu | |
| ENST00000673642.1:c.893G>C | ENSP00000501242.1:p.Cys298Ser | |
| ENST00000673991.1:c.1270G>C | ENSP00000501033.1:p.Val424Leu | |
| ENST00000226760.5:c.1234G>C MANE Select | ENSP00000226760.1:p.Val412Leu | |
| ENST00000503569.5:c.1234G>C | ENSP00000423337.1:p.Val412Leu | |
| ENST00000507765.1:n.1419G>C | ||
| NM_001145853.1:c.1234G>C | NP_001139325.1:p.Val412Leu | |
| NM_006005.3:c.1234G>C MANE Select | NP_005996.2:p.Val412Leu | |
| XM_017008586.1:c.1243G>C | XP_016864075.1:p.Val415Leu |