Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454477A= , CM000679.2:g.7454477A= | GRCh38 |
| NC_000017.10:g.7357796A= , CM000679.1:g.7357796A= | GRCh37 |
| NC_000017.9:g.7298520A= | NCBI36 |
| NG_008026.1:g.14391A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1001A= MANE Select | ENSP00000304290.2:p.His334= | |
| ENST00000306071.6:c.1001A= | ENSP00000304290.2:p.His334= | |
| ENST00000536404.6:c.785A= | ENSP00000439209.2:p.His262= | |
| ENST00000570557.5:c.664A= | ||
| ENST00000573209.1:n.1945A= | ||
| ENST00000576360.1:c.638A= | ENSP00000459092.1:p.His213= | |
| NM_000747.2:c.1001A= | NP_000738.2:p.His334= | |
| NM_000747.3:c.1001A= MANE Select | NP_000738.2:p.His334= |