Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8812512C>T , CM000686.2:g.8812512C>T | GRCh38 |
| NC_000024.9:g.8680553C>T , CM000686.1:g.8680553C>T | GRCh37 |
| NC_000024.8:g.8740553C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253470.4:n.37+4834G>A | ||
| NR_001548.2:n.37+4834G>A |