gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47275696 (AFR)
Genomes Max Group AF
0.4714931 (AFR)
Exomes Max Group AF
0.47051088 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31501727A>G , CM000677.2:g.31501727A>G | GRCh38 |
| NC_000015.9:g.31793930A>G , CM000677.1:g.31793930A>G | GRCh37 |
| NC_000015.8:g.29581222A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307050.6:c.1134T>C MANE Select | ENSP00000305926.5:p.Leu378= | |
| ENST00000560598.2:c.1113T>C | ENSP00000453883.2:p.Leu371= | |
| ENST00000678495.1:c.1113T>C | ENSP00000503326.1:p.Leu371= | |
| ENST00000307050.5:c.1113T>C | ENSP00000305926.4:p.Leu371= | |
| NM_130901.1:c.1113T>C | NP_570971.1:p.Leu371= | |
| XM_011521287.1:c.1395T>C | XP_011519589.1:p.Leu465= | |
| NM_001329907.1:c.1134T>C | NP_001316836.1:p.Leu378= | |
| NM_130901.2:c.1113T>C | NP_570971.1:p.Leu371= | |
| NM_001329907.2:c.1134T>C | NP_001316836.1:p.Leu378= | |
| NM_130901.3:c.1113T>C | NP_570971.1:p.Leu371= | |
| NM_001382637.1:c.1134T>C MANE Select | NP_001369566.1:p.Leu378= |