Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33265726C= , CM000683.2:g.33265726C= | GRCh38 |
| NC_000021.8:g.34638031C= , CM000683.1:g.34638031C= | GRCh37 |
| NC_000021.7:g.33559901C= | NCBI36 |
| NG_012089.1:g.4360C= , LRG_152:g.4360C= | |
| NG_016003.1:g.40801C= | |
| NG_016003.2:g.40801C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038974.1:n.375G= | |
| ENST00000432231.1:c.310-10870C= | |
| ENST00000433395.6:c.433-2668C= | |
| ENST00000433395.7:c.710-2668C= | ENSP00000388223.3:n.710-2668C= |
| ENST00000646150.1:c.*137+2089C= | ENSP00000496248.1:n.*137+2089C= |
| ENST00000682009.1:c.710-286C= | ENSP00000506919.1:n.710-286C= |
| ENST00000683116.1:c.*138-286C= | ENSP00000508125.1:n.*138-286C= |