Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797654C= , CM000678.2:g.8797654C= | GRCh38 |
| NC_000016.9:g.8891511C= , CM000678.1:g.8891511C= | GRCh37 |
| NC_000016.8:g.8799012C= | NCBI36 |
| NG_009209.1:g.4842C= | |
| NG_033146.1:g.4995G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566983.5:c.-15-4145C= | ENSP00000457956.1:n.-15-4145C= |