Revel Score:
ENST00000379802 (MANE Select)
0.041
ENST00000418664
0.041
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00092589 (AFR)
Genomes Max Group AF
0.00091527 (AFR)
Exomes Max Group AF
0.00077201 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583581G>C , CM000668.2:g.7583581G>C | GRCh38 |
| NC_000006.11:g.7583814G>C , CM000668.1:g.7583814G>C | GRCh37 |
| NC_000006.10:g.7528813G>C | NCBI36 |
| NG_008803.1:g.46945G>C , LRG_423:g.46945G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4990G>C | ENSP00000518230.1:p.Val1664Leu | |
| ENST00000379802.8:c.6319G>C MANE Select | ENSP00000369129.3:p.Val2107Leu | |
| ENST00000379802.7:c.6319G>C | ENSP00000369129.3:p.Val2107Leu | |
| ENST00000418664.2:c.4522G>C | ENSP00000396591.2:p.Val1508Leu | |
| NM_001008844.1:c.4522G>C | NP_001008844.1:p.Val1508Leu | |
| NM_004415.2:c.6319G>C , LRG_423t1:c.6319G>C | NP_004406.2:p.Val2107Leu | |
| XM_011514323.1:c.4990G>C | XP_011512625.1:p.Val1664Leu | |
| NM_001008844.2:c.4522G>C | NP_001008844.1:p.Val1508Leu | |
| NM_001319034.1:c.4990G>C | NP_001305963.1:p.Val1664Leu | |
| NM_004415.3:c.6319G>C | NP_004406.2:p.Val2107Leu | |
| NM_004415.4:c.6319G>C MANE Select | NP_004406.2:p.Val2107Leu | |
| NM_001008844.3:c.4522G>C | NP_001008844.1:p.Val1508Leu | |
| NM_001319034.2:c.4990G>C | NP_001305963.1:p.Val1664Leu |