Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041760A= , CM000674.2:g.56041760A= | GRCh38 |
| NC_000012.11:g.56435544A= , CM000674.1:g.56435544A= | GRCh37 |
| NC_000012.10:g.54721811A= | NCBI36 |
| NG_023201.1:g.4859A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-51A= | ENSP00000348849.5:n.-356-51A= | |
| XR_944989.3:n.244T= | ||
| XR_944990.3:n.244T= |