Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56691261A= , CM000678.2:g.56691261A= | GRCh38 |
| NC_000016.9:g.56725173A= , CM000678.1:g.56725173A= | GRCh37 |
| NC_000016.8:g.55282674A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000622334.1:c.*130+51181A= | ENSP00000478425.1:n.*130+51181A= |