COSMIC:
COSM6351930 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33461371 (SAS)
Genomes Max Group AF
0.34384977 (SAS)
Exomes Max Group AF
0.33335475 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118663373C>T , CM000673.2:g.118663373C>T | GRCh38 |
| NC_000011.9:g.118534082C>T , CM000673.1:g.118534082C>T | GRCh37 |
| NC_000011.8:g.118039292C>T | NCBI36 |
| NG_023321.1:g.21300G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264029.9:c.156G>A MANE Select | ENSP00000264029.5:p.Lys52= | |
| ENST00000264029.8:c.156G>A | ENSP00000264029.5:p.Lys52= | |
| ENST00000397925.2:c.156G>A | ENSP00000381020.2:p.Lys52= | |
| ENST00000527558.1:n.153-177G>A | ||
| ENST00000531295.5:n.175G>A | ||
| ENST00000613915.4:c.90-177G>A | ENSP00000477923.1:n.90-177G>A | |
| NM_001301065.1:c.156G>A | NP_001287994.1:p.Lys52= | |
| NM_007180.2:c.156G>A | NP_009111.2:p.Lys52= | |
| XM_011542564.1:c.-233-177G>A | XP_011540866.1:n.-233-177G>A | |
| NM_001301065.2:c.156G>A | NP_001287994.1:p.Lys52= | |
| NM_007180.3:c.156G>A MANE Select | NP_009111.2:p.Lys52= |