Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15419741T>G , CM000686.2:g.15419741T>G | GRCh38 |
| NC_000024.9:g.17531621T>G , CM000686.1:g.17531621T>G | GRCh37 |
| NC_000024.8:g.16041015T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421058.1:n.40+36294A>C |