Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173270C= , CM000678.2:g.173270C= | GRCh38 |
| NC_000016.9:g.223269C= , CM000678.1:g.223269C= | GRCh37 |
| NC_000016.8:g.163269C= | NCBI36 |
| NG_000006.1:g.34133C= | |
| NG_059186.1:g.1620C= | |
| NG_059271.1:g.5424C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.241C= MANE Select | NP_000508.1:p.Leu81= |
| ENST00000251595.11:c.241C= MANE Select | ENSP00000251595.6:p.Leu81= |
| NM_000517.4:c.241C= | NP_000508.1:p.Leu81= |
| ENST00000251595.10:c.241C= | ENSP00000251595.6:p.Leu81= |
| ENST00000397806.1:c.145C= | ENSP00000380908.1:p.Leu49= |
| ENST00000482565.1:n.377C= | |
| ENST00000484216.1:n.210C= |