Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38464454C= , CM000665.2:g.38464454C= | GRCh38 |
| NC_000003.11:g.38505945C= , CM000665.1:g.38505945C= | GRCh37 |
| NC_000003.10:g.38480949C= | NCBI36 |
| NG_011791.1:g.15156C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352511.5:c.52+10080C= MANE Select | ENSP00000340361.3:n.52+10080C= | |
| ENST00000352511.4:c.52+10080C= | ENSP00000340361.3:n.52+10080C= | |
| ENST00000465020.5:n.56+10080C= | ||
| NM_001106.3:c.52+10080C= | NP_001097.2:n.52+10080C= | |
| XM_005265583.2:c.115+4765C= | XP_005265640.1:n.115+4765C= | |
| XM_005265583.3:c.115+4765C= | XP_005265640.1:n.115+4765C= | |
| XM_017007514.1:c.94+4786C= | XP_016863003.1:n.94+4786C= | |
| XM_017007515.2:c.70+9770C= | XP_016863004.1:n.70+9770C= | |
| NM_001106.4:c.52+10080C= MANE Select | NP_001097.2:n.52+10080C= |