Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84545426T>C , CM000677.2:g.84545426T>C | GRCh38 |
| NC_000015.9:g.85088657T>C , CM000677.1:g.85088657T>C | GRCh37 |
| NC_000015.8:g.82889661T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561403.6:n.864+795A>G | ||
| ENST00000339094.5:n.1453+795A>G | ||
| ENST00000354771.8:n.371+795A>G | ||
| ENST00000558251.5:n.455+795A>G | ||
| NR_003661.2:n.1453+795A>G |