Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78364457A>C , CM000679.2:g.78364457A>C | GRCh38 |
| NC_000017.10:g.76360538A>C , CM000679.1:g.76360538A>C | GRCh37 |
| NC_000017.9:g.73872133A>C | NCBI36 |
| NG_016851.1:g.621T>G , LRG_619:g.621T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110845.1:n.462-40A>C | |
| NR_110846.1:n.139-40A>C | |
| NR_110847.1:n.405+1706A>C |