Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627166G= , CM000674.2:g.121627166G= | GRCh38 |
| NC_000012.11:g.122065072G= , CM000674.1:g.122065072G= | GRCh37 |
| NC_000012.10:g.120549455G= | NCBI36 |
| NG_007500.1:g.5592G= , LRG_93:g.5592G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+233G= | ||
| ENST00000617316.2:c.303+116G= | ENSP00000482568.2:n.303+116G= | |
| ENST00000646827.1:n.501+116G= | ||
| ENST00000611718.1:c.230G= | ENSP00000477953.1:p.Arg77= | |
| ENST00000616379.1:c.303+116G= | ENSP00000480616.1:n.303+116G= | |
| ENST00000617316.1:c.114+116G= | ENSP00000482568.1:n.114+116G= | |
| NM_032790.3:c.303+116G= , LRG_93t1:c.303+116G= | NP_116179.2:n.303+116G= |