Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425795T= , CM000677.2:g.48425795T= | GRCh38 |
| NC_000015.9:g.48717992T= , CM000677.1:g.48717992T= | GRCh37 |
| NC_000015.8:g.46505284T= | NCBI36 |
| NG_008805.2:g.224994A= , LRG_778:g.224994A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.7274A= MANE Select | NP_000129.3:p.Tyr2425= |
| ENST00000316623.10:c.7274A= MANE Select | ENSP00000325527.5:p.Tyr2425= |
| NM_000138.4:c.7274A= , LRG_778t1:c.7274A= | NP_000129.3:p.Tyr2425= |
| ENST00000316623.9:c.7274A= | ENSP00000325527.5:p.Tyr2425= |
| ENST00000559133.5:c.2643A= | |
| ENST00000559133.6:c.*82A= | ENSP00000453958.2:n.*82A= |
| ENST00000674301.1:c.2440A= | ENSP00000501333.1:n.2440A= |
| ENST00000674301.2:c.*787A= | ENSP00000501333.2:n.*787A= |
| ENST00000682170.1:n.1455A= | |
| ENST00000682767.1:n.571A= |