Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985925A= , CM000678.2:g.1985925A= | GRCh38 |
| NC_000016.9:g.2035926A= , CM000678.1:g.2035926A= | GRCh37 |
| NC_000016.8:g.1975927A= | NCBI36 |
| NG_016288.1:g.6777A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.290A= | ENSP00000455885.1:p.His97= | |
| ENST00000248114.7:c.515A= MANE Select | ENSP00000248114.6:p.His172= | |
| ENST00000248114.6:c.515A= | ENSP00000248114.6:p.His172= | |
| ENST00000565658.1:n.672A= | ||
| ENST00000567719.1:c.290A= | ENSP00000455885.1:p.His97= | |
| ENST00000569451.1:c.318A= | ENSP00000456432.1:p.Pro106= | |
| NM_005262.2:c.515A= | NP_005253.3:p.His172= | |
| NM_005262.3:c.515A= MANE Select | NP_005253.3:p.His172= |