Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19460495C>G , CM000686.2:g.19460495C>G | GRCh38 |
| NC_000024.9:g.21622381C>G , CM000686.1:g.21622381C>G | GRCh37 |
| NC_000024.8:g.20081769C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650676.1:n.1783-391G>C | ||
| ENST00000400605.5:n.1777-391G>C | ||
| ENST00000441139.5:n.1794-1129G>C | ||
| ENST00000513194.1:n.4580-1129G>C | ||
| NR_002923.2:n.1794-1129G>C | ||
| NR_033732.1:n.1794-391G>C |