Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430735A= , CM000677.2:g.48430735A= | GRCh38 |
| NC_000015.9:g.48722932A= , CM000677.1:g.48722932A= | GRCh37 |
| NC_000015.8:g.46510224A= | NCBI36 |
| NG_008805.2:g.220054T= , LRG_778:g.220054T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6807T= | ENSP00000453958.2:p.Ile2269= | |
| ENST00000674301.2:c.*258T= | ENSP00000501333.2:n.*258T= | |
| ENST00000682170.1:n.416T= | ||
| ENST00000316623.10:c.6807T= MANE Select | ENSP00000325527.5:p.Ile2269= | |
| ENST00000674301.1:c.1911T= | ENSP00000501333.1:n.1911T= | |
| ENST00000316623.9:c.6807T= | ENSP00000325527.5:p.Ile2269= | |
| ENST00000559133.5:c.2114T= | ||
| ENST00000560720.1:n.94T= | ||
| NM_000138.4:c.6807T= , LRG_778t1:c.6807T= | NP_000129.3:p.Ile2269= | |
| NM_000138.5:c.6807T= MANE Select | NP_000129.3:p.Ile2269= |