Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627120C= , CM000674.2:g.121627120C= | GRCh38 |
| NC_000012.11:g.122065026C= , CM000674.1:g.122065026C= | GRCh37 |
| NC_000012.10:g.120549409C= | NCBI36 |
| NG_007500.1:g.5546C= , LRG_93:g.5546C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+187C= | ||
| ENST00000617316.2:c.303+70C= | ENSP00000482568.2:n.303+70C= | |
| ENST00000646827.1:n.501+70C= | ||
| ENST00000611718.1:c.184C= | ENSP00000477953.1:p.Leu62= | |
| ENST00000616379.1:c.303+70C= | ENSP00000480616.1:n.303+70C= | |
| ENST00000617316.1:c.114+70C= | ENSP00000482568.1:n.114+70C= | |
| NM_032790.3:c.303+70C= , LRG_93t1:c.303+70C= | NP_116179.2:n.303+70C= |