Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.3000458T>G , CM000686.2:g.3000458T>G | GRCh38 |
| NC_000024.9:g.2868499T>G , CM000686.1:g.2868499T>G | GRCh37 |
| NC_000024.8:g.2928499T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_144458.1:n.314+1855A>C |