dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000764 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65206803C>A , CM000677.2:g.65206803C>A | GRCh38 |
| NC_000015.9:g.65499141C>A , CM000677.1:g.65499141C>A | GRCh37 |
| NC_000015.8:g.63286194C>A | NCBI36 |
| NG_012214.1:g.9700G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261883.6:c.403G>T MANE Select | ENSP00000261883.4:p.Val135Leu | |
| ENST00000261883.5:c.403G>T | ENSP00000261883.4:p.Val135Leu | |
| NM_003613.3:c.403G>T | NP_003604.3:p.Val135Leu | |
| XM_017022678.2:c.484G>T | XP_016878167.1:p.Val162Leu | |
| XM_017022679.1:c.331G>T | XP_016878168.1:p.Val111Leu | |
| NM_003613.4:c.403G>T MANE Select | NP_003604.4:p.Val135Leu |