dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173540C>T , CM000678.2:g.173540C>T | GRCh38 |
| NC_000016.9:g.223539C>T , CM000678.1:g.223539C>T | GRCh37 |
| NC_000016.8:g.163539C>T | NCBI36 |
| NG_000006.1:g.34403C>T | |
| NG_059186.1:g.1890C>T | |
| NG_059271.1:g.5694C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.369C>T MANE Select | ENSP00000251595.6:p.His123= | |
| ENST00000251595.10:c.369C>T | ENSP00000251595.6:p.His123= | |
| ENST00000397806.1:c.273C>T | ENSP00000380908.1:p.His91= | |
| ENST00000482565.1:n.505C>T | ||
| NM_000517.4:c.369C>T | NP_000508.1:p.His123= | |
| NM_000517.6:c.369C>T MANE Select | NP_000508.1:p.His123= |