Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001868A= , CM000663.2:g.94001868A= | GRCh38 |
| NC_000001.10:g.94467424A= , CM000663.1:g.94467424A= | GRCh37 |
| NC_000001.9:g.94240012A= | NCBI36 |
| NG_009073.1:g.124282T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6272T= MANE Select | NP_000341.2:p.Leu2091= |
| ENST00000370225.4:c.6272T= MANE Select | ENSP00000359245.3:p.Leu2091= |
| NM_000350.2:c.6272T= | NP_000341.2:p.Leu2091= |
| ENST00000370225.3:c.6272T= | ENSP00000359245.3:p.Leu2091= |
| ENST00000465352.1:n.688T= | |
| ENST00000536513.5:c.2648T= | ENSP00000439707.2:p.Leu883= |