Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173149C>T , CM000678.2:g.173149C>T | GRCh38 |
| NC_000016.9:g.223148C>T , CM000678.1:g.223148C>T | GRCh37 |
| NC_000016.8:g.163148C>T | NCBI36 |
| NG_000006.1:g.34012C>T | |
| NG_059186.1:g.1499C>T | |
| NG_059271.1:g.5303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.120C>T MANE Select | ENSP00000251595.6:p.Thr40= | |
| ENST00000251595.10:c.120C>T | ENSP00000251595.6:p.Thr40= | |
| ENST00000397806.1:c.24C>T | ENSP00000380908.1:p.Thr8= | |
| ENST00000482565.1:n.256C>T | ||
| ENST00000484216.1:n.89C>T | ||
| NM_000517.4:c.120C>T | NP_000508.1:p.Thr40= | |
| NM_000517.6:c.120C>T MANE Select | NP_000508.1:p.Thr40= |