Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19460083T>C , CM000686.2:g.19460083T>C | GRCh38 |
| NC_000024.9:g.21621969T>C , CM000686.1:g.21621969T>C | GRCh37 |
| NC_000024.8:g.20081357T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.1804A>G | ||
| ENST00000400605.5:n.1798A>G | ||
| ENST00000441139.5:n.1794-717A>G | ||
| ENST00000513194.1:n.4580-717A>G | ||
| NR_002923.2:n.1794-717A>G | ||
| NR_033732.1:n.1815A>G |