Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785050T= , CM000681.2:g.18785050T= | GRCh38 |
| NC_000019.9:g.18895860T= , CM000681.1:g.18895860T= | GRCh37 |
| NC_000019.8:g.18756860T= | NCBI36 |
| NG_007070.1:g.11255A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.1760A= MANE Select | NP_000086.2:p.His587= |
| ENST00000222271.7:c.1760A= MANE Select | ENSP00000222271.2:p.His587= |
| NM_000095.2:c.1760A= | NP_000086.2:p.His587= |
| ENST00000222271.6:c.1760A= | ENSP00000222271.2:p.His587= |
| ENST00000425807.1:c.1601A= | ENSP00000403792.1:p.His534= |
| ENST00000542601.6:c.1661A= | ENSP00000439156.2:p.His554= |