Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797746G= , CM000678.2:g.8797746G= | GRCh38 |
| NC_000016.9:g.8891603G= , CM000678.1:g.8891603G= | GRCh37 |
| NC_000016.8:g.8799104G= | NCBI36 |
| NG_009209.1:g.4934G= | |
| NG_033146.1:g.4903C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.-137G= | ENSP00000507849.1:n.-137G= | |
| ENST00000566983.5:c.-15-4053G= | ENSP00000457956.1:n.-15-4053G= |