Revel Score:
ENST00000336615 (MANE Select)
0.120
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00657651 (AFR)
Genomes Max Group AF
0.00601868 (AFR)
Exomes Max Group AF
0.00681942 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.824674C>G , CM000673.2:g.824674C>G | GRCh38 |
| NC_000011.9:g.824674C>G , CM000673.1:g.824674C>G | GRCh37 |
| NC_000011.8:g.814674C>G | NCBI36 |
| NG_023394.1:g.10774C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.1327C>G MANE Select | ENSP00000337701.4:p.Leu443Val | |
| ENST00000336615.8:c.1327C>G | ENSP00000337701.4:p.Leu443Val | |
| ENST00000525250.5:n.2181C>G | ||
| ENST00000529255.1:n.757C>G | ||
| ENST00000617551.1:c.325C>G | ENSP00000481602.1:p.Leu109Val | |
| NM_020376.3:c.1327C>G | NP_065109.1:p.Leu443Val | |
| XM_006718265.2:c.1469C>G | XP_006718328.1:p.Ala490Gly | |
| XM_006718266.2:c.1469C>G | XP_006718329.1:p.Ala490Gly | |
| XM_006718265.3:c.1469C>G | XP_006718328.1:p.Ala490Gly | |
| XM_006718266.3:c.1469C>G | XP_006718329.1:p.Ala490Gly | |
| XM_017018028.1:c.1327C>G | XP_016873517.1:p.Leu443Val | |
| XM_024448618.1:c.1555C>G | XP_024304386.1:p.Leu519Val | |
| NM_020376.4:c.1327C>G MANE Select | NP_065109.1:p.Leu443Val |