Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44191617T>C , CM000669.2:g.44191617T>C | GRCh38 |
| NC_000007.13:g.44231216T>C , CM000669.1:g.44231216T>C | GRCh37 |
| NC_000007.12:g.44197741T>C | NCBI36 |
| NG_008847.1:g.2807A>G | |
| NG_008847.2:g.11554A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000476008.1:n.480+6074A>G |