Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627097T= , CM000674.2:g.121627097T= | GRCh38 |
| NC_000012.11:g.122065003T= , CM000674.1:g.122065003T= | GRCh37 |
| NC_000012.10:g.120549386T= | NCBI36 |
| NG_007500.1:g.5523T= , LRG_93:g.5523T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+164T= | ||
| ENST00000617316.2:c.303+47T= | ENSP00000482568.2:n.303+47T= | |
| ENST00000646827.1:n.501+47T= | ||
| ENST00000611718.1:c.161T= | ENSP00000477953.1:p.Leu54= | |
| ENST00000616379.1:c.303+47T= | ENSP00000480616.1:n.303+47T= | |
| ENST00000617316.1:c.114+47T= | ENSP00000482568.1:n.114+47T= | |
| NM_032790.3:c.303+47T= , LRG_93t1:c.303+47T= | NP_116179.2:n.303+47T= |