gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14532627 (EAS)
Genomes Max Group AF
0.13531767 (EAS)
Exomes Max Group AF
0.14697868 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.48921447G>C , CM000680.2:g.48921447G>C | GRCh38 |
| NC_000018.9:g.46447817G>C , CM000680.1:g.46447817G>C | GRCh37 |
| NC_000018.8:g.44701815G>C | NCBI36 |
| NG_023330.1:g.34265C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262158.8:c.1206C>G MANE Select | ENSP00000262158.2:p.Gly402= | |
| ENST00000262158.7:c.1206C>G | ENSP00000262158.2:p.Gly402= | |
| ENST00000262158.6:c.1206C>G | ENSP00000262158.2:p.Gly402= | |
| ENST00000545051.2:n.791C>G | ||
| ENST00000587336.1:n.513C>G | ||
| ENST00000589634.1:c.1203C>G | ENSP00000467621.1:p.Gly401= | |
| ENST00000591805.5:c.561C>G | ENSP00000466902.1:p.Gly187= | |
| NM_001190821.1:c.1203C>G | NP_001177750.1:p.Gly401= | |
| NM_001190822.1:c.561C>G | NP_001177751.1:p.Gly187= | |
| NM_001190823.1:c.642C>G | NP_001177752.1:p.Gly214= | |
| NM_005904.3:c.1206C>G | NP_005895.1:p.Gly402= | |
| NM_001190822.2:c.561C>G | NP_001177751.1:p.Gly187= | |
| NM_001190821.2:c.1203C>G | NP_001177750.1:p.Gly401= | |
| NM_001190823.2:c.642C>G | NP_001177752.1:p.Gly214= | |
| NM_005904.4:c.1206C>G MANE Select | NP_005895.1:p.Gly402= |