Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949217A= , CM000672.2:g.94949217A= | GRCh38 |
| NC_000010.10:g.96708974A= , CM000672.1:g.96708974A= | GRCh37 |
| NC_000010.9:g.96698964A= | NCBI36 |
| NG_008385.1:g.15560A= | |
| NG_008385.2:g.16060A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.752A= MANE Select | ENSP00000260682.6:p.His251= | |
| ENST00000643112.1:c.752A= | ENSP00000496202.1:p.His251= | |
| ENST00000260682.6:c.752A= | ENSP00000260682.6:p.His251= | |
| ENST00000473496.1:n.523A= | ||
| NM_000771.3:c.752A= | NP_000762.2:p.His251= | |
| NM_000771.4:c.752A= MANE Select | NP_000762.2:p.His251= |