COSMIC:
COSN26633862 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49691468 (AMR)
Genomes Max Group AF
0.49711074 (AMR)
Exomes Max Group AF
0.30996943 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51995107A>G , CM000674.2:g.51995107A>G | GRCh38 |
| NC_000012.11:g.52388891A>G , CM000674.1:g.52388891A>G | GRCh37 |
| NC_000012.10:g.50675158A>G | NCBI36 |
| NG_022926.1:g.48441A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257963.9:c.*997A>G MANE Select | ENSP00000257963.4:n.*997A>G | |
| ENST00000257963.8:c.*997A>G | ENSP00000257963.4:n.*997A>G | |
| NM_004302.4:c.*997A>G | NP_004293.1:n.*997A>G | |
| NM_020327.3:c.*997A>G | NP_064732.3:n.*997A>G | |
| NM_020328.3:c.*997A>G | NP_064733.3:n.*997A>G | |
| NM_004302.5:c.*997A>G MANE Select | NP_004293.1:n.*997A>G | |
| NM_020328.4:c.*997A>G | NP_064733.3:n.*997A>G | |
| NM_020327.4:c.*997A>G | NP_064732.3:n.*997A>G |