Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.94930613T= , CM000674.2:g.94930613T= | GRCh38 |
| NC_000012.11:g.95324389T= , CM000674.1:g.95324389T= | GRCh37 |
| NC_000012.10:g.93848520T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000552205.5:c.150-2350A= | |
| ENST00000552205.6:c.258-2350A= | ENSP00000449144.2:n.258-2350A= |