Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23022649G= , CM000670.2:g.23022649G= | GRCh38 |
| NC_000008.10:g.22880162G= , CM000670.1:g.22880162G= | GRCh37 |
| NC_000008.9:g.22936107G= | NCBI36 |
| NG_012145.1:g.51539C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003842.5:c.*22C= MANE Select | NP_003833.4:n.*22C= |
| ENST00000276431.9:c.*22C= MANE Select | ENSP00000276431.4:n.*22C= |
| NM_003842.4:c.*22C= | NP_003833.4:n.*22C= |
| NM_147187.2:c.*22C= | NP_671716.2:n.*22C= |
| NM_147187.3:c.*22C= | NP_671716.2:n.*22C= |
| NR_027140.1:n.1445C= | |
| NR_027140.2:n.1289C= | |
| ENST00000276431.8:c.*22C= | ENSP00000276431.4:n.*22C= |
| ENST00000347739.3:c.*22C= | ENSP00000317859.3:n.*22C= |
| ENST00000523504.5:c.*879C= | ENSP00000427999.1:n.*879C= |
| ENST00000523752.5:n.812C= | |
| XR_949500.1:n.1638C= |