Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42470475G>A , CM000680.2:g.42470475G>A | GRCh38 |
| NC_000018.9:g.40050440G>A , CM000680.1:g.40050440G>A | GRCh37 |
| NC_000018.8:g.38304438G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_046174.2:n.872+15486G>A | ||
| NR_046454.1:n.652+15486G>A | ||
| NR_046455.1:n.489+15486G>A |