ClinVar Variation:
COSMIC:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23693872C>T , CM000663.2:g.23693872C>T | GRCh38 |
| NC_000001.10:g.24020362C>T , CM000663.1:g.24020362C>T | GRCh37 |
| NC_000001.9:g.23892949C>T | NCBI36 |
| NG_011741.1:g.7069C>T | |
| NG_011741.2:g.7094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374550.8:c.220C>T | ENSP00000363676.4:p.Arg74Ter | |
| ENST00000443624.6:n.241C>T | ||
| ENST00000458455.2:c.190C>T | ENSP00000398888.2:p.Arg64Ter | |
| ENST00000467075.2:c.*319C>T | ENSP00000493634.1:n.*319C>T | |
| ENST00000482370.2:n.217C>T | ||
| ENST00000643754.2:c.223C>T MANE Select | ENSP00000496250.1:p.Arg75Ter | |
| ENST00000374550.7:c.223C>T | ENSP00000363676.3:p.Arg75Ter | |
| ENST00000443624.5:c.217C>T | ENSP00000390839.1:p.Arg73Ter | |
| ENST00000458455.1:c.217C>T | ENSP00000398888.1:p.Arg73Ter | |
| ENST00000482370.1:n.520C>T | ||
| NM_000975.3:c.223C>T | NP_000966.2:p.Arg75Ter | |
| NM_001199802.1:c.220C>T | NP_001186731.1:p.Arg74Ter | |
| NM_000975.5:c.223C>T MANE Select | NP_000966.2:p.Arg75Ter |