Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49622053A= , CM000676.2:g.49622053A= | GRCh38 |
| NC_000014.8:g.50088771A= , CM000676.1:g.50088771A= | GRCh37 |
| NC_000014.7:g.49158521A= | NCBI36 |
| NG_008920.1:g.6283A= | |
| NG_033054.1:g.3579T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002408.4:c.785A= MANE Select | NP_002399.1:p.His262= |
| ENST00000305386.4:c.785A= MANE Select | ENSP00000307423.2:p.His262= |
| NM_002408.3:c.785A= | NP_002399.1:p.His262= |
| ENST00000305386.3:c.785A= | ENSP00000307423.2:p.His262= |