Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44189493A= , CM000669.2:g.44189493A= | GRCh38 |
| NC_000007.13:g.44229092A= , CM000669.1:g.44229092A= | GRCh37 |
| NC_000007.12:g.44195617A= | NCBI36 |
| NG_008847.1:g.4931T= | |
| NG_008847.2:g.13678T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476008.1:n.480+8198T= |