COSMIC:
COSM3749851 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25214558 (AFR)
Genomes Max Group AF
0.25373024 (AFR)
Exomes Max Group AF
0.24662157 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122826931C>T , CM000666.2:g.122826931C>T | GRCh38 |
| NC_000004.11:g.123748086C>T , CM000666.1:g.123748086C>T | GRCh37 |
| NC_000004.10:g.123967536C>T | NCBI36 |
| NG_029067.1:g.5224C>T | |
| NG_029067.2:g.5224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264498.9:c.156C>T | ENSP00000264498.4:p.Ser52= | |
| ENST00000264498.8:c.156C>T | ENSP00000264498.4:p.Ser52= | |
| ENST00000644866.2:c.-244C>T MANE Select | ENSP00000494222.1:n.-244C>T | |
| ENST00000264498.7:c.156C>T | ENSP00000264498.3:p.Ser52= | |
| ENST00000608478.1:c.-244C>T | ENSP00000477134.1:n.-244C>T | |
| ENST00000614010.4:c.156C>T | ENSP00000478620.1:p.Ser52= | |
| NM_002006.4:c.156C>T | NP_001997.5:p.Ser52= | |
| NM_001361665.1:c.-244C>T | NP_001348594.1:n.-244C>T | |
| NM_002006.5:c.156C>T | NP_001997.5:p.Ser52= | |
| NM_001361665.2:c.-244C>T MANE Select | NP_001348594.1:n.-244C>T | |
| NM_002006.6:c.156C>T | NP_001997.5:p.Ser52= |