Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48515440T= , CM000677.2:g.48515440T= | GRCh38 |
| NG_008805.2:g.135349A= , LRG_778:g.135349A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.1415A= MANE Select | NP_000129.3:p.Tyr472= |
| ENST00000316623.10:c.1415A= MANE Select | ENSP00000325527.5:p.Tyr472= |
| NM_000138.4:c.1415A= , LRG_778t1:c.1415A= | NP_000129.3:p.Tyr472= |
| ENST00000316623.9:c.1415A= | ENSP00000325527.5:p.Tyr472= |
| ENST00000537463.6:c.636+22271A= | ENSP00000440294.2:n.636+22271A= |
| ENST00000559133.6:c.1415A= | ENSP00000453958.2:p.Tyr472= |
| ENST00000674301.2:c.1415A= | ENSP00000501333.2:p.Tyr472= |
| ENST00000684448.1:n.89A= |