Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7898965C>G , CM000669.2:g.7898965C>G | GRCh38 |
| NC_000007.13:g.7938596C>G , CM000669.1:g.7938596C>G | GRCh37 |
| NC_000007.12:g.7905121C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000482067.3:n.248-68734C>G |