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