Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425397A= , CM000677.2:g.48425397A= | GRCh38 |
| NC_000015.9:g.48717594A= , CM000677.1:g.48717594A= | GRCh37 |
| NC_000015.8:g.46504886A= | NCBI36 |
| NG_008805.2:g.225392T= , LRG_778:g.225392T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*233T= | ENSP00000453958.2:n.*233T= | |
| ENST00000674301.2:c.*938T= | ENSP00000501333.2:n.*938T= | |
| ENST00000682170.1:n.1606T= | ||
| ENST00000682767.1:n.722T= | ||
| ENST00000316623.10:c.7425T= MANE Select | ENSP00000325527.5:p.Ile2475= | |
| ENST00000674301.1:c.2591T= | ENSP00000501333.1:n.2591T= | |
| ENST00000316623.9:c.7425T= | ENSP00000325527.5:p.Ile2475= | |
| ENST00000559133.5:c.2794T= | ||
| NM_000138.4:c.7425T= , LRG_778t1:c.7425T= | NP_000129.3:p.Ile2475= | |
| NM_000138.5:c.7425T= MANE Select | NP_000129.3:p.Ile2475= |