COSMIC:
COSM1389815 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64010639 (NFE)
Genomes Max Group AF
0.64280782 (NFE)
Exomes Max Group AF
0.63966917 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77250689T>C , CM000680.2:g.77250689T>C | GRCh38 |
| NC_000018.9:g.74962645T>C , CM000680.1:g.74962645T>C | GRCh37 |
| NC_000018.8:g.73091633T>C | NCBI36 |
| NG_009223.1:g.5638T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299727.5:c.141T>C MANE Select | ENSP00000299727.3:p.Gly47= | |
| ENST00000299727.4:c.141T>C | ENSP00000299727.3:p.Gly47= | |
| NM_001480.3:c.141T>C | NP_001471.2:p.Gly47= | |
| XM_017025691.1:c.141T>C | XP_016881180.1:p.Gly47= | |
| NM_001480.4:c.141T>C MANE Select | NP_001471.2:p.Gly47= |