Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48508630T= , CM000677.2:g.48508630T= | GRCh38 |
| NC_000015.9:g.48800827T= , CM000677.1:g.48800827T= | GRCh37 |
| NC_000015.8:g.46588119T= | NCBI36 |
| NG_008805.2:g.142159A= , LRG_778:g.142159A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1789A= | ENSP00000453958.2:p.Ile597= | |
| ENST00000674301.2:c.1789A= | ENSP00000501333.2:p.Ile597= | |
| ENST00000684448.1:n.463A= | ||
| ENST00000316623.10:c.1789A= MANE Select | ENSP00000325527.5:p.Ile597= | |
| ENST00000316623.9:c.1789A= | ENSP00000325527.5:p.Ile597= | |
| ENST00000537463.6:c.636+29081A= | ENSP00000440294.2:n.636+29081A= | |
| NM_000138.4:c.1789A= , LRG_778t1:c.1789A= | NP_000129.3:p.Ile597= | |
| NM_000138.5:c.1789A= MANE Select | NP_000129.3:p.Ile597= |