gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00040207 (AMR)
Exomes Max Group AF
0.00053945 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425981A>G , CM000664.2:g.219425981A>G | GRCh38 |
| NC_000002.11:g.220290703A>G , CM000664.1:g.220290703A>G | GRCh37 |
| NC_000002.10:g.219998947A>G | NCBI36 |
| NG_008043.1:g.12605A>G , LRG_380:g.12605A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.878A>G | ||
| ENST00000683013.1:n.792A>G | ||
| ENST00000373960.4:c.1404A>G MANE Select | ENSP00000363071.3:p.Glu468= | |
| ENST00000373960.3:c.1404A>G | ENSP00000363071.3:p.Glu468= | |
| ENST00000483395.1:n.259A>G | ||
| NM_001927.3:c.1404A>G , LRG_380t1:c.1404A>G | NP_001918.3:p.Glu468= | |
| NM_001927.4:c.1404A>G MANE Select | NP_001918.3:p.Glu468= | |
| NM_001382708.1:c.1401A>G | NP_001369637.1:p.Glu467= | |
| NM_001382709.1:c.972A>G | NP_001369638.1:p.Glu324= | |
| NM_001382710.1:c.1335A>G | NP_001369639.1:p.Glu445= | |
| NM_001382711.1:c.1383A>G | NP_001369640.1:p.Glu461= | |
| NM_001382712.1:c.1371+236A>G | NP_001369641.1:n.1371+236A>G | |
| NM_001382713.1:c.1134A>G | NP_001369642.1:p.Glu378= |