COSMIC:
COSM330436 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27935989 (NFE)
Genomes Max Group AF
0.28537094 (EAS)
Exomes Max Group AF
0.27934644 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70450862G>A , CM000664.2:g.70450862G>A | GRCh38 |
| NC_000002.11:g.70677994G>A , CM000664.1:g.70677994G>A | GRCh37 |
| NC_000002.10:g.70531502G>A | NCBI36 |
| NG_029975.1:g.108154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295400.11:c.480C>T MANE Select | ENSP00000295400.6:p.Val160= | |
| ENST00000295400.10:c.480C>T | ENSP00000295400.6:p.Val160= | |
| ENST00000418333.6:c.477C>T | ENSP00000404099.2:p.Val159= | |
| ENST00000419940.5:c.379-1241C>T | ||
| ENST00000444975.5:c.498C>T | ENSP00000404131.1:p.Val166= | |
| ENST00000445399.5:c.*18+867C>T | ENSP00000387493.1:n.*18+867C>T | |
| ENST00000450929.5:c.495C>T | ENSP00000414127.1:p.Val165= | |
| NM_001099691.2:c.477C>T | NP_001093161.1:p.Val159= | |
| NM_001308158.1:c.498C>T | NP_001295087.1:p.Val166= | |
| NM_001308159.1:c.495C>T | NP_001295088.1:p.Val165= | |
| NM_003236.3:c.480C>T | NP_003227.1:p.Val160= | |
| NM_003236.4:c.480C>T MANE Select | NP_003227.1:p.Val160= | |
| NM_001099691.3:c.477C>T | NP_001093161.1:p.Val159= | |
| NM_001308158.2:c.498C>T | NP_001295087.1:p.Val166= | |
| NM_001308159.2:c.495C>T | NP_001295088.1:p.Val165= |