Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7776629T>C , CM000686.2:g.7776629T>C | GRCh38 |
| NC_000024.9:g.7644670T>C , CM000686.1:g.7644670T>C | GRCh37 |
| NC_000024.8:g.7704670T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000442584.2:n.492A>G | |
| ENST00000455527.5:n.79A>G | |
| ENST00000651261.1:n.190A>G | |
| ENST00000652723.1:n.1102A>G |