Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12312120G>T , CM000686.2:g.12312120G>T | GRCh38 |
| NC_000024.9:g.14432847G>T , CM000686.1:g.14432847G>T | GRCh37 |
| NC_000024.8:g.12942855G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651802.1:n.451-70712C>A | ||
| ENST00000651835.1:n.320-54089C>A |