gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.48921759G>C , CM000680.2:g.48921759G>C | GRCh38 |
| NC_000018.9:g.46448129G>C , CM000680.1:g.46448129G>C | GRCh37 |
| NC_000018.8:g.44702127G>C | NCBI36 |
| NG_023330.1:g.33953C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262158.8:c.894C>G MANE Select | ENSP00000262158.2:p.Leu298= | |
| ENST00000262158.7:c.894C>G | ENSP00000262158.2:p.Leu298= | |
| ENST00000262158.6:c.894C>G | ENSP00000262158.2:p.Leu298= | |
| ENST00000545051.2:n.479C>G | ||
| ENST00000585986.1:n.305C>G | ||
| ENST00000586093.1:c.249C>G | ENSP00000465590.1:p.Leu83= | |
| ENST00000587336.1:n.201C>G | ||
| ENST00000588190.1:n.283C>G | ||
| ENST00000589634.1:c.891C>G | ENSP00000467621.1:p.Leu297= | |
| ENST00000591805.5:c.249C>G | ENSP00000466902.1:p.Leu83= | |
| NM_001190821.1:c.891C>G | NP_001177750.1:p.Leu297= | |
| NM_001190822.1:c.249C>G | NP_001177751.1:p.Leu83= | |
| NM_001190823.1:c.330C>G | NP_001177752.1:p.Leu110= | |
| NM_005904.3:c.894C>G | NP_005895.1:p.Leu298= | |
| NM_001190822.2:c.249C>G | NP_001177751.1:p.Leu83= | |
| NM_001190821.2:c.891C>G | NP_001177750.1:p.Leu297= | |
| NM_001190823.2:c.330C>G | NP_001177752.1:p.Leu110= | |
| NM_005904.4:c.894C>G MANE Select | NP_005895.1:p.Leu298= |