Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.26331809C= , CM000673.2:g.26331809C= | GRCh38 |
| NC_000011.9:g.26353356C= , CM000673.1:g.26353356C= | GRCh37 |
| NC_000011.8:g.26309932C= | NCBI36 |
| NG_042856.1:g.147687C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001313726.1:c.229+22090C= | NP_001300655.1:n.229+22090C= |
| NM_001313726.2:c.229+22090C= | NP_001300655.1:n.229+22090C= |
| ENST00000256737.7:c.-467C= | ENSP00000256737.3:n.-467C= |
| ENST00000525139.5:c.-3+22090C= | ENSP00000432576.1:n.-3+22090C= |
| ENST00000672621.1:c.229+22090C= | ENSP00000500506.1:n.229+22090C= |
| XR_931138.1:n.250+53G= | |
| XR_931138.2:n.167+53G= |