Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8812763C= , CM000686.2:g.8812763C= | GRCh38 |
| NC_000024.9:g.8680804C= , CM000686.1:g.8680804C= | GRCh37 |
| NC_000024.8:g.8740804C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253470.4:n.37+4583G= | ||
| NR_001548.2:n.37+4583G= |