Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042490C>T , CM000674.2:g.56042490C>T | GRCh38 |
| NC_000012.11:g.56436274C>T , CM000674.1:g.56436274C>T | GRCh37 |
| NC_000012.10:g.54722541C>T | NCBI36 |
| NG_023201.1:g.5589C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.69C>T | ENSP00000348849.5:p.Cys23= | |
| ENST00000646449.2:c.69C>T MANE Select | ENSP00000496643.1:p.Cys23= | |
| ENST00000356464.9:c.69C>T | ENSP00000348849.5:p.Cys23= | |
| ENST00000548590.1:n.96C>T | ||
| ENST00000552361.1:c.69C>T | ENSP00000450339.1:p.Cys23= | |
| NM_001029.3:c.69C>T | NP_001020.2:p.Cys23= | |
| NM_001029.5:c.69C>T MANE Select | NP_001020.2:p.Cys23= |