Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42470558T>C , CM000680.2:g.42470558T>C | GRCh38 |
| NC_000018.9:g.40050523T>C , CM000680.1:g.40050523T>C | GRCh37 |
| NC_000018.8:g.38304521T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046174.2:n.872+15569T>C | ||
| NR_046454.1:n.652+15569T>C | ||
| NR_046455.1:n.489+15569T>C |