Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94078678T= , CM000663.2:g.94078678T= | GRCh38 |
| NC_000001.10:g.94544234T= , CM000663.1:g.94544234T= | GRCh37 |
| NC_000001.9:g.94316822T= | NCBI36 |
| NG_009073.1:g.47472A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.1268A= MANE Select | NP_000341.2:p.His423= |
| ENST00000370225.4:c.1268A= MANE Select | ENSP00000359245.3:p.His423= |
| NM_000350.2:c.1268A= | NP_000341.2:p.His423= |
| ENST00000370225.3:c.1268A= | ENSP00000359245.3:p.His423= |
| ENST00000649773.1:c.1268A= | ENSP00000496882.1:p.His423= |