Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1996083A>G , CM000682.2:g.1996083A>G | GRCh38 |
| NC_000020.10:g.1976729A>G , CM000682.1:g.1976729A>G | GRCh37 |
| NC_000020.9:g.1924729A>G | NCBI36 |
| NG_028027.1:g.3163T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_244229.1:n.1217-10849A>G | ||
| NR_134520.1:n.1253-10849A>G |