COSMIC:
COSM4418471 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95721829 (AFR)
Genomes Max Group AF
0.9507584 (AFR)
Exomes Max Group AF
0.9598051 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37714662T>C , CM000683.2:g.37714662T>C | GRCh38 |
| NC_000021.8:g.39086965T>C , CM000683.1:g.39086965T>C | GRCh37 |
| NC_000021.7:g.38008835T>C | NCBI36 |
| NG_029892.2:g.206732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609713.2:c.495A>G MANE Select | ENSP00000477437.1:p.Pro165= | |
| ENST00000645093.1:c.495A>G | ENSP00000493772.1:p.Pro165= | |
| ENST00000609713.1:c.495A>G | ENSP00000477437.1:p.Pro165= | |
| NM_002240.3:c.495A>G | NP_002231.1:p.Pro165= | |
| NM_002240.4:c.495A>G | NP_002231.1:p.Pro165= | |
| XM_011529558.1:c.495A>G | XP_011527860.1:p.Pro165= | |
| XM_011529559.1:c.495A>G | XP_011527861.1:p.Pro165= | |
| NM_002240.5:c.495A>G MANE Select | NP_002231.1:p.Pro165= |