Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056793T>G , CM000667.2:g.136056793T>G | GRCh38 |
| NC_000005.9:g.135392482T>G , CM000667.1:g.135392482T>G | GRCh37 |
| NC_000005.8:g.135420381T>G | NCBI36 |
| NG_012646.1:g.32899T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000358.3:c.1676T>G MANE Select | NP_000349.1:p.Leu559Trp |
| ENST00000442011.7:c.1676T>G MANE Select | ENSP00000416330.2:p.Leu559Trp |
| NM_000358.2:c.1676T>G | NP_000349.1:p.Leu559Trp |
| ENST00000442011.6:c.1676T>G | ENSP00000416330.2:p.Leu559Trp |
| ENST00000506699.5:n.2193T>G | |
| ENST00000507018.5:c.1654T>G | |
| ENST00000509485.5:c.673T>G | |
| ENST00000514242.5:n.447T>G | |
| ENST00000514554.5:c.828T>G |