ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36933316 (EAS)
Genomes Max Group AF
0.36087031 (EAS)
Exomes Max Group AF
0.36894486 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44539581G>C , CM000669.2:g.44539581G>C | GRCh38 |
| NC_000007.13:g.44579180G>C , CM000669.1:g.44579180G>C | GRCh37 |
| NC_000007.12:g.44545705G>C | NCBI36 |
| NG_013088.1:g.6735C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381160.8:c.816C>G MANE Select | ENSP00000370552.3:p.Leu272= | |
| ENST00000289547.8:c.816C>G | ENSP00000289547.4:p.Leu272= | |
| ENST00000381160.7:c.816C>G | ENSP00000370552.3:p.Leu272= | |
| ENST00000423141.1:c.816C>G | ENSP00000404670.1:p.Leu272= | |
| ENST00000546276.5:c.816C>G | ENSP00000438033.1:p.Leu272= | |
| NM_001101648.1:c.816C>G | NP_001095118.1:p.Leu272= | |
| NM_001300967.1:c.816C>G | NP_001287896.1:p.Leu272= | |
| NM_013389.2:c.816C>G | NP_037521.2:p.Leu272= | |
| XM_011515326.1:c.816C>G | XP_011513628.1:p.Leu272= | |
| XM_011515327.1:c.816C>G | XP_011513629.1:p.Leu272= | |
| XM_011515326.3:c.816C>G | XP_011513628.1:p.Leu272= | |
| XM_011515328.2:c.-552C>G | XP_011513630.1:n.-552C>G | |
| XR_002956423.1:n.1208C>G | ||
| NM_001101648.2:c.816C>G MANE Select | NP_001095118.1:p.Leu272= | |
| NM_001300967.2:c.816C>G | NP_001287896.1:p.Leu272= | |
| NM_013389.3:c.816C>G | NP_037521.2:p.Leu272= |