Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789287T= , CM000681.2:g.18789287T= | GRCh38 |
| NC_000019.9:g.18900096T= , CM000681.1:g.18900096T= | GRCh37 |
| NC_000019.8:g.18761096T= | NCBI36 |
| NG_007070.1:g.7019A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.401A= MANE Select | ENSP00000222271.2:p.His134= | |
| ENST00000222271.6:c.401A= | ENSP00000222271.2:p.His134= | |
| ENST00000425807.1:c.391-395A= | ENSP00000403792.1:n.391-395A= | |
| ENST00000542601.6:c.302A= | ENSP00000439156.2:p.His101= | |
| NM_000095.2:c.401A= | NP_000086.2:p.His134= | |
| NM_000095.3:c.401A= MANE Select | NP_000086.2:p.His134= |