Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307317C>A , CM000673.2:g.121307317C>A | GRCh38 |
| NC_000011.9:g.121178026C>A , CM000673.1:g.121178026C>A | GRCh37 |
| NC_000011.8:g.120683236C>A | NCBI36 |
| NG_009446.1:g.19639C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.705C>A MANE Select | ENSP00000264027.4:p.Phe235Leu | |
| ENST00000264027.8:c.705C>A | ENSP00000264027.4:p.Phe235Leu | |
| ENST00000392789.2:c.705C>A | ENSP00000376539.2:p.Phe235Leu | |
| ENST00000527183.1:n.998C>A | ||
| ENST00000534230.5:c.631+74C>A | ENSP00000432550.1:n.631+74C>A | |
| NM_001024956.2:c.705C>A | NP_001020127.1:p.Phe235Leu | |
| NM_006918.4:c.705C>A | NP_008849.2:p.Phe235Leu | |
| NM_006918.5:c.705C>A MANE Select | NP_008849.2:p.Phe235Leu | |
| NM_001024956.3:c.705C>A | NP_001020127.1:p.Phe235Leu |