Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.79453831C>G , CM000669.2:g.79453831C>G | GRCh38 |
| NC_000007.13:g.79083147C>G , CM000669.1:g.79083147C>G | GRCh37 |
| NC_000007.12:g.78921083C>G | NCBI36 |
| NG_011487.1:g.4744G>C | |
| NG_011487.2:g.4744G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038345.1:n.235+640C>G | |
| NR_038346.1:n.304+176C>G |