Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42470452A= , CM000680.2:g.42470452A= | GRCh38 |
| NC_000018.9:g.40050417A= , CM000680.1:g.40050417A= | GRCh37 |
| NC_000018.8:g.38304415A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_046174.2:n.872+15463A= | ||
| NR_046454.1:n.652+15463A= | ||
| NR_046455.1:n.489+15463A= |