Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22148948C>G , CM000670.2:g.22148948C>G | GRCh38 |
| NC_000008.10:g.22006461C>G , CM000670.1:g.22006461C>G | GRCh37 |
| NC_000008.9:g.22062406C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139278.4:c.859G>C MANE Select | NP_644807.1:p.Val287Leu |
| ENST00000306317.7:c.859G>C MANE Select | ENSP00000302297.2:p.Val287Leu |
| NM_139278.2:c.859G>C | NP_644807.1:p.Val287Leu |
| NM_139278.3:c.859G>C | NP_644807.1:p.Val287Leu |
| ENST00000306317.6:c.859G>C | ENSP00000302297.2:p.Val287Leu |
| ENST00000424267.6:c.787G>C | ENSP00000399121.2:p.Val263Leu |
| ENST00000520124.5:n.2302G>C |