Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100277451C>G , CM000676.2:g.100277451C>G | GRCh38 |
| NC_000014.8:g.100743788C>G , CM000676.1:g.100743788C>G | GRCh37 |
| NC_000014.7:g.99813541C>G | NCBI36 |
| NG_046908.1:g.43687C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1096C>G MANE Select | NP_003394.1:p.Leu366Val |
| ENST00000262238.10:c.1096C>G MANE Select | ENSP00000262238.4:p.Leu366Val |
| NM_003403.4:c.1096C>G | NP_003394.1:p.Leu366Val |
| ENST00000262238.8:c.1096C>G | ENSP00000262238.4:p.Leu366Val |
| ENST00000554579.1:n.484C>G | |
| ENST00000554804.1:c.423C>G | |
| ENST00000623799.1:n.1723C>G | |
| ENST00000651219.1:c.586C>G | ENSP00000498329.1:n.586C>G |
| ENST00000704024.1:n.1145C>G | |
| ENST00000704485.1:c.334C>G | ENSP00000515913.1:p.Leu112Val |