Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173246C= , CM000678.2:g.173246C= | GRCh38 |
| NC_000016.9:g.223245C= , CM000678.1:g.223245C= | GRCh37 |
| NC_000016.8:g.163245C= | NCBI36 |
| NG_000006.1:g.34109C= | |
| NG_059186.1:g.1596C= | |
| NG_059271.1:g.5400C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.217C= MANE Select | ENSP00000251595.6:p.His73= | |
| ENST00000251595.10:c.217C= | ENSP00000251595.6:p.His73= | |
| ENST00000397806.1:c.121C= | ENSP00000380908.1:p.His41= | |
| ENST00000482565.1:n.353C= | ||
| ENST00000484216.1:n.186C= | ||
| NM_000517.4:c.217C= | NP_000508.1:p.His73= | |
| NM_000517.6:c.217C= MANE Select | NP_000508.1:p.His73= |