COSMIC:
COSM4003552 (not active)
COSM4003553 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44186298 (AMR)
Genomes Max Group AF
0.41903844 (AMR)
Exomes Max Group AF
0.44746696 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53051539C>T , CM000667.2:g.53051539C>T | GRCh38 |
| NC_000005.9:g.52347369C>T , CM000667.1:g.52347369C>T | GRCh37 |
| NC_000005.8:g.52383126C>T | NCBI36 |
| NG_008330.1:g.67214C>T | |
| NG_008330.2:g.67214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296585.10:c.759C>T MANE Select | ENSP00000296585.5:p.Phe253= | |
| ENST00000296585.9:c.759C>T | ENSP00000296585.5:p.Phe253= | |
| ENST00000503810.6:c.*103C>T | ENSP00000426489.1:n.*103C>T | |
| ENST00000509814.5:c.759C>T | ENSP00000424397.1:p.Phe253= | |
| ENST00000509960.5:c.759C>T | ENSP00000424642.1:p.Phe253= | |
| ENST00000510722.1:c.759C>T | ENSP00000422145.1:p.Phe253= | |
| ENST00000513685.5:c.*473C>T | ENSP00000422095.1:n.*473C>T | |
| NM_002203.3:c.759C>T | NP_002194.2:p.Phe253= | |
| NR_073103.1:n.902C>T | ||
| NR_073104.1:n.902C>T | ||
| NR_073105.1:n.902C>T | ||
| NR_073106.1:n.902C>T | ||
| NR_073107.1:n.781C>T | ||
| NM_002203.4:c.759C>T MANE Select | NP_002194.2:p.Phe253= | |
| NR_073103.2:n.876C>T | ||
| NR_073104.2:n.876C>T | ||
| NR_073105.2:n.876C>T | ||
| NR_073106.2:n.876C>T | ||
| NR_073107.2:n.755C>T |