Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319266A= , CM000673.2:g.6319266A= | GRCh38 |
| NC_000011.9:g.6340496A= , CM000673.1:g.6340496A= | GRCh37 |
| NC_000011.8:g.6297072A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.683T= MANE Select | ENSP00000307292.3:p.Leu228= | |
| ENST00000303927.3:c.683T= | ENSP00000307292.3:p.Leu228= | |
| ENST00000524852.1:n.469T= | ||
| ENST00000530979.1:c.779T= | ENSP00000432047.1:p.Leu260= | |
| ENST00000532354.1:n.705T= | ||
| NM_145040.2:c.683T= | NP_659477.2:p.Leu228= | |
| XR_930997.1:n.720+1046A= | ||
| XR_242848.4:n.126A= | ||
| NM_145040.3:c.683T= MANE Select | NP_659477.2:p.Leu228= |