COSMIC:
COSM149196 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16018388 (AFR)
Genomes Max Group AF
0.15608097 (AFR)
Exomes Max Group AF
0.16305266 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49524145C>T , CM000682.2:g.49524145C>T | GRCh38 |
| NC_000020.10:g.48140682C>T , CM000682.1:g.48140682C>T | GRCh37 |
| NC_000020.9:g.47574089C>T | NCBI36 |
| NG_007940.1:g.49026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244043.5:c.768G>A MANE Select | ENSP00000244043.3:p.Leu256= | |
| ENST00000244043.4:c.768G>A | ENSP00000244043.3:p.Leu256= | |
| ENST00000478971.1:n.589G>A | ||
| NM_000961.3:c.768G>A | NP_000952.1:p.Leu256= | |
| NM_000961.4:c.768G>A MANE Select | NP_000952.1:p.Leu256= |