Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8812633C>A , CM000686.2:g.8812633C>A | GRCh38 |
| NC_000024.9:g.8680674C>A , CM000686.1:g.8680674C>A | GRCh37 |
| NC_000024.8:g.8740674C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253470.4:n.37+4713G>T | ||
| NR_001548.2:n.37+4713G>T |