Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173170C>T , CM000678.2:g.173170C>T | GRCh38 |
| NC_000016.9:g.223169C>T , CM000678.1:g.223169C>T | GRCh37 |
| NC_000016.8:g.163169C>T | NCBI36 |
| NG_000006.1:g.34033C>T | |
| NG_059186.1:g.1520C>T | |
| NG_059271.1:g.5324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.141C>T MANE Select | ENSP00000251595.6:p.Phe47= | |
| ENST00000251595.10:c.141C>T | ENSP00000251595.6:p.Phe47= | |
| ENST00000397806.1:c.45C>T | ENSP00000380908.1:p.Phe15= | |
| ENST00000482565.1:n.277C>T | ||
| ENST00000484216.1:n.110C>T | ||
| NM_000517.4:c.141C>T | NP_000508.1:p.Phe47= | |
| NM_000517.6:c.141C>T MANE Select | NP_000508.1:p.Phe47= |