Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319382G>A , CM000673.2:g.6319382G>A | GRCh38 |
| NC_000011.9:g.6340612G>A , CM000673.1:g.6340612G>A | GRCh37 |
| NC_000011.8:g.6297188G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.567C>T MANE Select | ENSP00000307292.3:p.Leu189= | |
| ENST00000303927.3:c.567C>T | ENSP00000307292.3:p.Leu189= | |
| ENST00000524852.1:n.353C>T | ||
| ENST00000530979.1:c.663C>T | ENSP00000432047.1:p.Leu221= | |
| ENST00000532354.1:n.589C>T | ||
| NM_145040.2:c.567C>T | NP_659477.2:p.Leu189= | |
| XR_930997.1:n.720+1162G>A | ||
| XR_242848.4:n.242G>A | ||
| NM_145040.3:c.567C>T MANE Select | NP_659477.2:p.Leu189= |