Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124125C>T , CM000664.2:g.208124125C>T | GRCh38 |
| NC_000002.11:g.208988849C>T , CM000664.1:g.208988849C>T | GRCh37 |
| NC_000002.10:g.208697094C>T | NCBI36 |
| NG_008039.1:g.5465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.239G>A MANE Select | ENSP00000264376.4:p.Arg80His | |
| ENST00000264376.4:c.239G>A | ENSP00000264376.4:p.Arg80His | |
| NM_006891.3:c.239G>A | NP_008822.2:p.Arg80His | |
| NR_038437.1:n.97+4900C>T | ||
| NM_006891.4:c.239G>A MANE Select | NP_008822.2:p.Arg80His |