Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940367T= , CM000678.2:g.67940367T= | GRCh38 |
| NC_000016.9:g.67974270T= , CM000678.1:g.67974270T= | GRCh37 |
| NC_000016.8:g.66531771T= | NCBI36 |
| NG_009778.1:g.8746A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.860A= MANE Select | ENSP00000264005.5:p.His287= | |
| ENST00000264005.9:c.860A= | ENSP00000264005.5:p.His287= | |
| ENST00000570369.5:c.156-293A= | ||
| ENST00000570980.1:c.644A= | ENSP00000464651.1:p.His215= | |
| ENST00000573538.5:c.598A= | ENSP00000463220.1:n.598A= | |
| NM_000229.1:c.860A= | NP_000220.1:p.His287= | |
| NM_000229.2:c.860A= MANE Select | NP_000220.1:p.His287= |