Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46046349G= , CM000672.2:g.46046349G= | GRCh38 |
| NC_000010.10:g.51549473C= , CM000672.1:g.51549473C= | GRCh37 |
| NC_000010.9:g.51219479C= | NCBI36 |
| NG_011551.1:g.4921C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000663171.1:c.-112C= | ENSP00000499419.1:n.-112C= |