Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11254354C= , CM000678.2:g.11254354C= | GRCh38 |
| NC_000016.9:g.11348211C= , CM000678.1:g.11348211C= | GRCh37 |
| NC_000016.8:g.11255712C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000572173.1:c.-516+4576C= | ENSP00000461206.1:n.-516+4576C= |
| ENST00000573910.1:n.160+4576C= | |
| ENST00000649869.1:n.152+4576C= | |
| XR_933070.1:n.733+4576C= | |
| XR_933070.3:n.876+4576C= |