Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8811848A>G , CM000686.2:g.8811848A>G | GRCh38 |
| NC_000024.9:g.8679889A>G , CM000686.1:g.8679889A>G | GRCh37 |
| NC_000024.8:g.8739889A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253470.4:n.37+5498T>C | ||
| NR_001548.2:n.37+5498T>C |