Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319477G>A , CM000673.2:g.6319477G>A | GRCh38 |
| NC_000011.9:g.6340707G>A , CM000673.1:g.6340707G>A | GRCh37 |
| NC_000011.8:g.6297283G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.472C>T MANE Select | ENSP00000307292.3:p.Leu158= | |
| ENST00000303927.3:c.472C>T | ENSP00000307292.3:p.Leu158= | |
| ENST00000524852.1:n.258C>T | ||
| ENST00000530979.1:c.568C>T | ENSP00000432047.1:p.Leu190= | |
| ENST00000532354.1:n.494C>T | ||
| NM_145040.2:c.472C>T | NP_659477.2:p.Leu158= | |
| XR_930997.1:n.720+1257G>A | ||
| XR_001748106.1:n.88G>A | ||
| XR_242848.4:n.337G>A | ||
| NM_145040.3:c.472C>T MANE Select | NP_659477.2:p.Leu158= |