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