Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115738264G= , CM000663.2:g.115738264G= | GRCh38 |
| NC_000001.10:g.116280885G= , CM000663.1:g.116280885G= | GRCh37 |
| NC_000001.9:g.116082408G= | NCBI36 |
| NG_008802.1:g.35542C= , LRG_404:g.35542C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.216C= | ENSP00000518226.1:p.Tyr72= | |
| ENST00000261448.6:c.492C= MANE Select | ENSP00000261448.5:p.Tyr164= | |
| ENST00000261448.5:c.492C= | ENSP00000261448.5:p.Tyr164= | |
| NM_001232.3:c.492C= , LRG_404t1:c.492C= | NP_001223.2:p.Tyr164= | |
| NM_001232.4:c.492C= MANE Select | NP_001223.2:p.Tyr164= |