Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12352183T= , CM000686.2:g.12352183T= | GRCh38 |
| NC_000024.9:g.14472914T= , CM000686.1:g.14472914T= | GRCh37 |
| NC_000024.8:g.12982922T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651802.1:n.450+54201A= | ||
| ENST00000651835.1:n.319+54613A= |