Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1996172C>G , CM000682.2:g.1996172C>G | GRCh38 |
| NC_000020.10:g.1976818C>G , CM000682.1:g.1976818C>G | GRCh37 |
| NC_000020.9:g.1924818C>G | NCBI36 |
| NG_028027.1:g.3074G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_134520.1:n.1253-10760C>G | |
| XR_244229.1:n.1217-10760C>G |