Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42478917T>C , CM000680.2:g.42478917T>C | GRCh38 |
| NC_000018.9:g.40058882T>C , CM000680.1:g.40058882T>C | GRCh37 |
| NC_000018.8:g.38312880T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_046174.2:n.872+23928T>C | |
| NR_046454.1:n.652+23928T>C | |
| NR_046455.1:n.489+23928T>C |