Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19475873G= , CM000686.2:g.19475873G= | GRCh38 |
| NC_000024.9:g.21637759G= , CM000686.1:g.21637759G= | GRCh37 |
| NC_000024.8:g.20097147G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002923.2:n.249-970C= | |
| NR_033732.1:n.249-970C= | |
| ENST00000400605.5:n.232-970C= | |
| ENST00000441139.5:n.249-970C= | |
| ENST00000513194.1:n.3397-975C= | |
| ENST00000650676.1:n.238-970C= |