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