Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11310036C= , CM000678.2:g.11310036C= | GRCh38 |
| NC_000016.9:g.11403893C= , CM000678.1:g.11403893C= | GRCh37 |
| NC_000016.8:g.11311394C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000572173.1:c.-436-2793C= | ENSP00000461206.1:n.-436-2793C= |
| ENST00000573910.1:n.161-6416C= | |
| ENST00000649869.1:n.152+60258C= | |
| XR_933070.1:n.733+60258C= | |
| XR_933070.3:n.876+60258C= |