Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19483073T>C , CM000686.2:g.19483073T>C | GRCh38 |
| NC_000024.9:g.21644959T>C , CM000686.1:g.21644959T>C | GRCh37 |
| NC_000024.8:g.20104347T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650676.1:n.112-2779A>G | ||
| ENST00000400605.5:n.106-2779A>G | ||
| ENST00000441139.5:n.123-2779A>G | ||
| ENST00000513194.1:n.1812A>G | ||
| NR_002923.2:n.123-2779A>G | ||
| NR_033732.1:n.123-2779A>G |