Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010695T= , CM000664.2:g.189010695T= | GRCh38 |
| NC_000002.11:g.189875421T= , CM000664.1:g.189875421T= | GRCh37 |
| NC_000002.10:g.189583666T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3960T= | ENSP00000415346.2:p.His1320= | |
| ENST00000304636.9:c.4059T= MANE Select | ENSP00000304408.4:p.His1353= | |
| ENST00000304636.7:c.4059T= | ENSP00000304408.3:p.His1353= | |
| ENST00000317840.9:c.3150T= | ENSP00000315243.6:p.His1050= | |
| ENST00000487010.1:n.1438T= | ||
| NM_000090.4:c.4059T= MANE Select | NP_000081.2:p.His1353= |