Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44189469C= , CM000669.2:g.44189469C= | GRCh38 |
| NC_000007.13:g.44229068C= , CM000669.1:g.44229068C= | GRCh37 |
| NC_000007.12:g.44195593C= | NCBI36 |
| NG_008847.1:g.4955G= | |
| NG_008847.2:g.13702G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000476008.1:n.480+8222G= |