Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44541392T>G , CM000669.2:g.44541392T>G | GRCh38 |
| NC_000007.13:g.44580991T>G , CM000669.1:g.44580991T>G | GRCh37 |
| NC_000007.12:g.44547516T>G | NCBI36 |
| NG_013088.1:g.4924A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_002956423.1:n.260A>C |