Revel Score:
ENST00000320876 (MANE Select)
0.080
ENST00000261598
0.080
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00098806 (EAS)
Genomes Max Group AF
0.00090412 (EAS)
Exomes Max Group AF
0.00091623 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2694578C>G , CM000680.2:g.2694578C>G | GRCh38 |
| NC_000018.9:g.2694576C>G , CM000680.1:g.2694576C>G | GRCh37 |
| NC_000018.8:g.2684576C>G | NCBI36 |
| NG_031972.1:g.43691C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684915.1:n.1082C>G | ||
| ENST00000688342.1:c.925C>G | ENSP00000508422.1:p.Leu309Val | |
| ENST00000693213.1:n.203C>G | ||
| ENST00000320876.11:c.925C>G MANE Select | ENSP00000326603.7:p.Leu309Val | |
| ENST00000320876.10:c.925C>G | ENSP00000326603.6:p.Leu309Val | |
| ENST00000581226.1:n.159C>G | ||
| NM_015295.2:c.925C>G | NP_056110.2:p.Leu309Val | |
| XM_011525642.1:c.925C>G | XP_011523944.1:p.Leu309Val | |
| XM_011525643.1:c.925C>G | XP_011523945.1:p.Leu309Val | |
| XM_011525644.1:c.541C>G | XP_011523946.1:p.Leu181Val | |
| XM_011525645.1:c.361C>G | XP_011523947.1:p.Leu121Val | |
| XM_011525646.1:c.925C>G | XP_011523948.1:p.Leu309Val | |
| XM_011525647.1:c.925C>G | XP_011523949.1:p.Leu309Val | |
| XR_430039.1:n.1114C>G | ||
| XR_935054.1:n.1114C>G | ||
| XR_935055.1:n.1114C>G | ||
| XM_011525643.2:c.925C>G | XP_011523945.1:p.Leu309Val | |
| XM_017025684.1:c.361C>G | XP_016881173.1:p.Leu121Val | |
| XR_001753172.1:n.1114C>G | ||
| XR_001753173.1:n.1114C>G | ||
| XR_001753174.1:n.1114C>G | ||
| XR_001753175.1:n.1114C>G | ||
| XR_001753176.1:n.1114C>G | ||
| XR_001753177.1:n.1114C>G | ||
| XR_001753178.1:n.1114C>G | ||
| XR_001753179.1:n.1114C>G | ||
| XR_935055.2:n.1114C>G | ||
| NM_015295.3:c.925C>G MANE Select | NP_056110.2:p.Leu309Val |