Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87713177A= , CM000672.2:g.87713177A= | GRCh38 |
| NC_000010.10:g.89472934A= , CM000672.1:g.89472934A= | GRCh37 |
| NC_000010.9:g.89462914A= | NCBI36 |
| NG_012150.1:g.58459A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.248A= MANE Select | ENSP00000406157.1:p.His83= | |
| ENST00000361175.8:c.248A= | ENSP00000354436.4:p.His83= | |
| ENST00000456849.1:c.248A= | ENSP00000406157.1:p.His83= | |
| ENST00000465996.5:n.270A= | ||
| ENST00000482258.1:n.291A= | ||
| NM_001015880.1:c.248A= | NP_001015880.1:p.His83= | |
| NM_004670.3:c.248A= | NP_004661.2:p.His83= | |
| NM_001015880.2:c.248A= MANE Select | NP_001015880.1:p.His83= | |
| NM_004670.4:c.248A= | NP_004661.2:p.His83= |