Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041947C= , CM000674.2:g.56041947C= | GRCh38 |
| NC_000012.11:g.56435731C= , CM000674.1:g.56435731C= | GRCh37 |
| NC_000012.10:g.54721998C= | NCBI36 |
| NG_023201.1:g.5046C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-220C= | ENSP00000348849.5:n.-220C= | |
| ENST00000646449.2:c.-220C= MANE Select | ENSP00000496643.1:n.-220C= | |
| ENST00000356464.9:c.-220C= | ENSP00000348849.5:n.-220C= | |
| ENST00000552361.1:c.-152C= | ENSP00000450339.1:n.-152C= | |
| NM_001029.3:c.-220C= | NP_001020.2:n.-220C= | |
| NM_001029.5:c.-220C= MANE Select | NP_001020.2:n.-220C= | |
| XR_944989.3:n.57G= | ||
| XR_944990.3:n.57G= |