gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002988 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002913 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950328G>C , CM000669.2:g.150950328G>C | GRCh38 |
| NC_000007.13:g.150647416G>C , CM000669.1:g.150647416G>C | GRCh37 |
| NC_000007.12:g.150278349G>C | NCBI36 |
| NG_008916.1:g.32599C>G , LRG_288:g.32599C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1536C>G | ||
| ENST00000684241.1:n.3071C>G | ||
| ENST00000262186.10:c.2238C>G MANE Select | ENSP00000262186.5:p.Ala746= | |
| ENST00000330883.9:c.1218C>G | ENSP00000328531.4:p.Ala406= | |
| ENST00000262186.9:c.2238C>G | ENSP00000262186.5:p.Ala746= | |
| ENST00000330883.8:c.1218C>G | ENSP00000328531.4:p.Ala406= | |
| ENST00000430723.4:c.1890C>G | ENSP00000387657.4:p.Ala630= | |
| ENST00000461280.1:n.1525C>G | ||
| ENST00000473610.5:n.1870C>G | ||
| ENST00000532957.5:n.2461C>G | ||
| NM_000238.3:c.2238C>G , LRG_288t1:c.2238C>G | NP_000229.1:p.Ala746= | |
| NM_001204798.1:c.1218C>G | NP_001191727.1:p.Ala406= | |
| NM_172056.2:c.2238C>G , LRG_288t2:c.2238C>G | NP_742053.1:p.Ala746= | |
| NM_172057.2:c.1218C>G , LRG_288t3:c.1218C>G | NP_742054.1:p.Ala406= | |
| XM_011516185.1:c.1938C>G | XP_011514487.1:p.Ala646= | |
| XM_011516186.1:c.2238C>G | XP_011514488.1:p.Ala746= | |
| XM_011516185.2:c.1938C>G | XP_011514487.1:p.Ala646= | |
| XM_011516186.3:c.2238C>G | XP_011514488.1:p.Ala746= | |
| XM_017012195.1:c.2088C>G | XP_016867684.1:p.Ala696= | |
| XM_017012196.1:c.2061C>G | XP_016867685.1:p.Ala687= | |
| NM_000238.4:c.2238C>G MANE Select | NP_000229.1:p.Ala746= | |
| NM_001204798.2:c.1218C>G | NP_001191727.1:p.Ala406= | |
| NM_172057.3:c.1218C>G | NP_742054.1:p.Ala406= |