gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36477331 (AMR)
Genomes Max Group AF
0.29863176 (AMR)
Exomes Max Group AF
0.3854808 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113989703A>G , CM000673.2:g.113989703A>G | GRCh38 |
| NC_000011.9:g.113860425A>G , CM000673.1:g.113860425A>G | GRCh37 |
| NC_000011.8:g.113365635A>G | NCBI36 |
| NG_013058.1:g.19629A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504030.7:c.1377A>G MANE Select | ENSP00000424189.2:p.Leu459= | |
| ENST00000299961.5:c.1332A>G | ENSP00000299961.4:p.Leu444= | |
| ENST00000355556.6:c.1491A>G | ENSP00000347754.2:p.Leu497= | |
| ENST00000375498.6:c.1395A>G | ENSP00000364648.2:p.Leu465= | |
| ENST00000504030.6:c.1377A>G | ENSP00000424189.2:p.Leu459= | |
| ENST00000506841.6:c.1473A>G | ENSP00000424776.2:p.Leu491= | |
| ENST00000510849.5:c.*499A>G | ENSP00000423653.1:n.*499A>G | |
| NM_000869.5:c.1395A>G | NP_000860.2:p.Leu465= | |
| NM_001161772.2:c.1332A>G | NP_001155244.1:p.Leu444= | |
| NM_213621.3:c.1491A>G | NP_998786.2:p.Leu497= | |
| NR_046363.1:n.1467A>G | ||
| NM_000869.6:c.1377A>G MANE Select | NP_000860.3:p.Leu459= | |
| NM_213621.4:c.1473A>G | NP_998786.3:p.Leu491= | |
| NM_001161772.3:c.1332A>G | NP_001155244.1:p.Leu444= | |
| NR_046363.2:n.1434A>G |