COSMIC:
COSN6443018 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17091586 (EAS)
Genomes Max Group AF
0.18066936 (EAS)
Exomes Max Group AF
0.15966815 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21578036C>T , CM000663.2:g.21578036C>T | GRCh38 |
| NC_000001.10:g.21904529C>T , CM000663.1:g.21904529C>T | GRCh37 |
| NC_000001.9:g.21777116C>T | NCBI36 |
| NG_008940.1:g.73672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.*388C>T MANE Select | ENSP00000363973.3:n.*388C>T | |
| ENST00000374829.2:n.1232C>T | ||
| ENST00000374840.7:c.*388C>T | ENSP00000363973.3:n.*388C>T | |
| ENST00000539907.5:c.*388C>T | ENSP00000437674.1:n.*388C>T | |
| ENST00000540617.5:c.*388C>T | ENSP00000442672.1:n.*388C>T | |
| NM_000478.4:c.*388C>T | NP_000469.3:n.*388C>T | |
| NM_001127501.2:c.*388C>T | NP_001120973.2:n.*388C>T | |
| NM_001177520.1:c.*388C>T | NP_001170991.1:n.*388C>T | |
| XM_005245818.1:c.*388C>T | XP_005245875.1:n.*388C>T | |
| XM_006710546.1:c.*388C>T | XP_006710609.1:n.*388C>T | |
| NM_000478.5:c.*388C>T | NP_000469.3:n.*388C>T | |
| NM_001127501.3:c.*388C>T | NP_001120973.2:n.*388C>T | |
| NM_001177520.2:c.*388C>T | NP_001170991.1:n.*388C>T | |
| XM_006710546.3:c.*388C>T | XP_006710609.1:n.*388C>T | |
| XM_017000903.1:c.1807C>T | XP_016856392.1:n.1807C>T | |
| NM_000478.6:c.*388C>T MANE Select | NP_000469.3:n.*388C>T | |
| NM_001127501.4:c.*388C>T | NP_001120973.2:n.*388C>T | |
| NM_001177520.3:c.*388C>T | NP_001170991.1:n.*388C>T | |
| NM_001369803.2:c.*388C>T | NP_001356732.1:n.*388C>T | |
| NM_001369804.2:c.*388C>T | NP_001356733.1:n.*388C>T | |
| NM_001369805.2:c.*388C>T | NP_001356734.1:n.*388C>T |