Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627098C= , CM000674.2:g.121627098C= | GRCh38 |
| NC_000012.11:g.122065004C= , CM000674.1:g.122065004C= | GRCh37 |
| NC_000012.10:g.120549387C= | NCBI36 |
| NG_007500.1:g.5524C= , LRG_93:g.5524C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+165C= | ||
| ENST00000617316.2:c.303+48C= | ENSP00000482568.2:n.303+48C= | |
| ENST00000646827.1:n.501+48C= | ||
| ENST00000611718.1:c.162C= | ENSP00000477953.1:p.Leu54= | |
| ENST00000616379.1:c.303+48C= | ENSP00000480616.1:n.303+48C= | |
| ENST00000617316.1:c.114+48C= | ENSP00000482568.1:n.114+48C= | |
| NM_032790.3:c.303+48C= , LRG_93t1:c.303+48C= | NP_116179.2:n.303+48C= |