Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.141080376C= , CM000665.2:g.141080376C= | GRCh38 |
| NC_000003.11:g.140799218C= , CM000665.1:g.140799218C= | GRCh37 |
| NC_000003.10:g.142281908C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310546.3:c.694+13578C= MANE Select | ENSP00000311609.2:n.694+13578C= | |
| ENST00000310546.2:c.694+13578C= | ENSP00000311609.2:n.694+13578C= | |
| ENST00000507895.1:n.225C= | ||
| ENST00000508126.1:c.161+13578C= | ||
| NM_080862.2:c.694+13578C= | NP_543138.1:n.694+13578C= | |
| XM_011513313.1:c.694+13578C= | XP_011511615.1:n.694+13578C= | |
| XR_924215.1:n.1515C= | ||
| XR_924216.1:n.1515C= | ||
| XM_017007509.2:c.*79C= | XP_016862998.1:n.*79C= | |
| XR_924215.3:n.996C= | ||
| XR_924216.3:n.996C= | ||
| NM_080862.3:c.694+13578C= MANE Select | NP_543138.1:n.694+13578C= |