Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177292C= , CM000678.2:g.177292C= | GRCh38 |
| NC_000016.9:g.227291C= , CM000678.1:g.227291C= | GRCh37 |
| NC_000016.8:g.167291C= | NCBI36 |
| NG_000006.1:g.38155C= | |
| NG_059186.1:g.5642C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.310C= MANE Select | ENSP00000322421.5:p.His104= | |
| ENST00000397797.1:c.214C= | ENSP00000380899.1:p.His72= | |
| ENST00000472694.1:n.446C= | ||
| NM_000558.4:c.310C= | NP_000549.1:p.His104= | |
| NM_000558.5:c.310C= MANE Select | NP_000549.1:p.His104= |