gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88943787 (AFR)
Genomes Max Group AF
0.88435335 (AFR)
Exomes Max Group AF
0.89051184 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128912083T>G , CM000673.2:g.128912083T>G | GRCh38 |
| NC_000011.9:g.128781978T>G , CM000673.1:g.128781978T>G | GRCh37 |
| NC_000011.8:g.128287188T>G | NCBI36 |
| NG_023406.2:g.25666T>G , LRG_333:g.25666T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.810T>G MANE Select | ENSP00000433295.1:p.Leu270= | |
| ENST00000338350.4:c.810T>G | ENSP00000339960.4:p.Leu270= | |
| ENST00000529694.5:c.810T>G | ENSP00000433295.1:p.Leu270= | |
| ENST00000533599.1:c.810T>G | ENSP00000434266.1:p.Leu270= | |
| NM_000890.3:c.810T>G , LRG_333t1:c.810T>G | NP_000881.3:p.Leu270= | |
| XM_011542809.1:c.810T>G | XP_011541111.1:p.Leu270= | |
| XM_011542810.1:c.810T>G | XP_011541112.1:p.Leu270= | |
| NM_000890.4:c.810T>G | NP_000881.3:p.Leu270= | |
| NM_001354169.1:c.810T>G | NP_001341098.1:p.Leu270= | |
| XM_011542809.2:c.810T>G | XP_011541111.1:p.Leu270= | |
| XM_011542810.3:c.810T>G | XP_011541112.1:p.Leu270= | |
| NM_000890.5:c.810T>G MANE Select | NP_000881.3:p.Leu270= | |
| NM_001354169.2:c.810T>G | NP_001341098.1:p.Leu270= |