Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005509G= , CM000663.2:g.94005509G= | GRCh38 |
| NC_000001.10:g.94471065G= , CM000663.1:g.94471065G= | GRCh37 |
| NC_000001.9:g.94243653G= | NCBI36 |
| NG_009073.1:g.120641C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6079C= MANE Select | ENSP00000359245.3:p.Leu2027= | |
| ENST00000370225.3:c.6079C= | ENSP00000359245.3:p.Leu2027= | |
| ENST00000465352.1:n.495C= | ||
| ENST00000484388.1:n.193C= | ||
| ENST00000536513.5:c.2455C= | ENSP00000439707.2:p.Leu819= | |
| NM_000350.2:c.6079C= | NP_000341.2:p.Leu2027= | |
| NM_000350.3:c.6079C= MANE Select | NP_000341.2:p.Leu2027= |