Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173182C>T , CM000678.2:g.173182C>T | GRCh38 |
| NC_000016.9:g.223181C>T , CM000678.1:g.223181C>T | GRCh37 |
| NC_000016.8:g.163181C>T | NCBI36 |
| NG_000006.1:g.34045C>T | |
| NG_059186.1:g.1532C>T | |
| NG_059271.1:g.5336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.153C>T MANE Select | ENSP00000251595.6:p.His51= | |
| ENST00000251595.10:c.153C>T | ENSP00000251595.6:p.His51= | |
| ENST00000397806.1:c.57C>T | ENSP00000380908.1:p.His19= | |
| ENST00000482565.1:n.289C>T | ||
| ENST00000484216.1:n.122C>T | ||
| NM_000517.4:c.153C>T | NP_000508.1:p.His51= | |
| NM_000517.6:c.153C>T MANE Select | NP_000508.1:p.His51= |