COSMIC:
COSM3999888 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92971761 (AFR)
Genomes Max Group AF
0.92389651 (AFR)
Exomes Max Group AF
0.9316105 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57465990T>C , CM000678.2:g.57465990T>C | GRCh38 |
| NC_000016.9:g.57499902T>C , CM000678.1:g.57499902T>C | GRCh37 |
| NC_000016.8:g.56057403T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219252.10:c.174T>C MANE Select | ENSP00000219252.4:p.Val58= | |
| ENST00000219252.9:c.174T>C | ENSP00000219252.4:p.Val58= | |
| ENST00000562599.5:c.*433T>C | ENSP00000456367.1:n.*433T>C | |
| ENST00000562953.5:n.232T>C | ||
| ENST00000563115.5:n.239T>C | ||
| ENST00000563589.1:n.268T>C | ||
| ENST00000564651.5:n.225T>C | ||
| ENST00000567982.5:n.223T>C | ||
| NM_032940.2:c.174T>C | NP_116558.1:p.Val58= | |
| XM_011523111.1:c.174T>C | XP_011521413.1:p.Val58= | |
| NM_032940.3:c.174T>C MANE Select | NP_116558.1:p.Val58= |