Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173512T= , CM000678.2:g.173512T= | GRCh38 |
| NC_000016.9:g.223511T= , CM000678.1:g.223511T= | GRCh37 |
| NC_000016.8:g.163511T= | NCBI36 |
| NG_000006.1:g.34375T= | |
| NG_059186.1:g.1862T= | |
| NG_059271.1:g.5666T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.341T= MANE Select | ENSP00000251595.6:p.Leu114= | |
| ENST00000251595.10:c.341T= | ENSP00000251595.6:p.Leu114= | |
| ENST00000397806.1:c.245T= | ENSP00000380908.1:p.Leu82= | |
| ENST00000482565.1:n.477T= | ||
| NM_000517.4:c.341T= | NP_000508.1:p.Leu114= | |
| NM_000517.6:c.341T= MANE Select | NP_000508.1:p.Leu114= |