Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.51732120T>G , CM000664.2:g.51732120T>G | GRCh38 |
| NC_000002.11:g.51959258T>G , CM000664.1:g.51959258T>G | GRCh37 |
| NC_000002.10:g.51812762T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_135237.1:n.754-29969T>G | |
| XR_245003.1:n.754-29969T>G |