Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19484678T= , CM000686.2:g.19484678T= | GRCh38 |
| NC_000024.9:g.21646564T= , CM000686.1:g.21646564T= | GRCh37 |
| NC_000024.8:g.20105952T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.112-4384A= | ||
| ENST00000400605.5:n.106-4384A= | ||
| ENST00000441139.5:n.123-4384A= | ||
| ENST00000513194.1:n.207A= | ||
| NR_002923.2:n.123-4384A= | ||
| NR_033732.1:n.123-4384A= |