Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44642803T= , CM000681.2:g.44642803T= | GRCh38 |
| NC_000019.9:g.45146103T= , CM000681.1:g.45146103T= | GRCh37 |
| NC_000019.8:g.49837943T= | NCBI36 |
| NG_008781.2:g.4006T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001753953.1:n.530-10184A= | |
| XR_001753954.1:n.467-10184A= |