gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00139807 (NFE)
Genomes Max Group AF
0.00106142 (NFE)
Exomes Max Group AF
0.00140718 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725852C>G , CM000682.2:g.46725852C>G | GRCh38 |
| NC_000020.10:g.45354491C>G , CM000682.1:g.45354491C>G | GRCh37 |
| NC_000020.9:g.44787898C>G | NCBI36 |
| NG_016284.1:g.21213C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.816C>G MANE Select | ENSP00000352216.2:p.Ala272= | |
| ENST00000359271.3:c.816C>G | ENSP00000352216.2:p.Ala272= | |
| NM_030777.3:c.816C>G | NP_110404.1:p.Ala272= | |
| XM_011529060.1:c.879C>G | XP_011527362.1:p.Ala293= | |
| XM_011529061.1:c.825C>G | XP_011527363.1:p.Ala275= | |
| XM_011529062.1:c.879C>G | XP_011527364.1:p.Ala293= | |
| XM_011529063.1:c.879C>G | XP_011527365.1:p.Ala293= | |
| XM_011529064.1:c.879C>G | XP_011527366.1:p.Ala293= | |
| XM_011529065.1:c.879C>G | XP_011527367.1:p.Ala293= | |
| XR_936641.1:n.1015C>G | ||
| XM_011529060.2:c.879C>G | XP_011527362.1:p.Ala293= | |
| XM_011529061.2:c.825C>G | XP_011527363.1:p.Ala275= | |
| XM_011529062.2:c.879C>G | XP_011527364.1:p.Ala293= | |
| XM_011529063.2:c.879C>G | XP_011527365.1:p.Ala293= | |
| XM_011529064.2:c.879C>G | XP_011527366.1:p.Ala293= | |
| XM_011529065.2:c.879C>G | XP_011527367.1:p.Ala293= | |
| XM_017028087.2:c.816C>G | XP_016883576.1:p.Ala272= | |
| XR_936641.2:n.1002C>G | ||
| NM_030777.4:c.816C>G MANE Select | NP_110404.1:p.Ala272= |