Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173272G= , CM000678.2:g.173272G= | GRCh38 |
| NC_000016.9:g.223271G= , CM000678.1:g.223271G= | GRCh37 |
| NC_000016.8:g.163271G= | NCBI36 |
| NG_000006.1:g.34135G= | |
| NG_059186.1:g.1622G= | |
| NG_059271.1:g.5426G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.243G= MANE Select | ENSP00000251595.6:p.Leu81= | |
| ENST00000251595.10:c.243G= | ENSP00000251595.6:p.Leu81= | |
| ENST00000397806.1:c.147G= | ENSP00000380908.1:p.Leu49= | |
| ENST00000482565.1:n.379G= | ||
| ENST00000484216.1:n.212G= | ||
| NM_000517.4:c.243G= | NP_000508.1:p.Leu81= | |
| NM_000517.6:c.243G= MANE Select | NP_000508.1:p.Leu81= |