ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00052371 (NFE)
Genomes Max Group AF
0.00044392 (NFE)
Exomes Max Group AF
0.00052059 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31059186C>G , CM000670.2:g.31059186C>G | GRCh38 |
| NC_000008.10:g.30916702C>G , CM000670.1:g.30916702C>G | GRCh37 |
| NC_000008.9:g.31036244C>G | NCBI36 |
| NG_008870.1:g.30925C>G , LRG_524:g.30925C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.130C>G MANE Select | ENSP00000298139.5:p.Leu44Val | |
| ENST00000650667.1:c.130C>G | ENSP00000498593.1:p.Leu44Val | |
| ENST00000298139.5:c.130C>G | ENSP00000298139.5:p.Leu44Val | |
| NM_000553.4:c.130C>G , LRG_524t1:c.130C>G | NP_000544.2:p.Leu44Val | |
| XM_011544639.1:c.130C>G | XP_011542941.1:p.Leu44Val | |
| XR_949470.1:n.403C>G | ||
| XR_949471.1:n.403C>G | ||
| XR_949472.1:n.403C>G | ||
| NM_000553.5:c.130C>G | NP_000544.2:p.Leu44Val | |
| XM_011544639.3:c.130C>G | XP_011542941.1:p.Leu44Val | |
| XM_024447265.1:c.-205C>G | XP_024303033.1:n.-205C>G | |
| XR_949470.3:n.431C>G | ||
| XR_949471.3:n.431C>G | ||
| XR_949472.3:n.431C>G | ||
| NM_000553.6:c.130C>G MANE Select | NP_000544.2:p.Leu44Val |