COSMIC:
COSM3998402 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54390034 (NFE)
Genomes Max Group AF
0.53261882 (NFE)
Exomes Max Group AF
0.54435193 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4138227A>G , CM000673.2:g.4138227A>G | GRCh38 |
| NC_000011.9:g.4159457A>G , CM000673.1:g.4159457A>G | GRCh37 |
| NC_000011.8:g.4116033A>G | NCBI36 |
| NG_027992.2:g.48534A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300738.10:c.2223A>G MANE Select | ENSP00000300738.5:p.Thr741= | |
| ENST00000300738.9:c.2223A>G | ENSP00000300738.5:p.Thr741= | |
| ENST00000532170.5:c.*2099A>G | ENSP00000435656.1:n.*2099A>G | |
| ENST00000533349.5:c.*1931A>G | ENSP00000434069.1:n.*1931A>G | |
| ENST00000533495.5:c.*1371A>G | ENSP00000436377.1:n.*1371A>G | |
| ENST00000534285.5:c.1557A>G | ENSP00000431464.1:p.Thr519= | |
| NM_001033.3:c.2223A>G | NP_001024.1:p.Thr741= | |
| XM_011520277.1:c.1932A>G | XP_011518579.1:p.Thr644= | |
| XM_011520278.1:c.1557A>G | XP_011518580.1:p.Thr519= | |
| XM_011520279.1:c.1209A>G | XP_011518581.1:p.Thr403= | |
| NM_001033.4:c.2223A>G | NP_001024.1:p.Thr741= | |
| NM_001318064.1:c.1932A>G | NP_001304993.1:p.Thr644= | |
| NM_001318065.1:c.1209A>G | NP_001304994.1:p.Thr403= | |
| NM_001330193.1:c.1557A>G | NP_001317122.1:p.Thr519= | |
| NM_001033.5:c.2223A>G MANE Select | NP_001024.1:p.Thr741= |