Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7738614C>G , CM000686.2:g.7738614C>G | GRCh38 |
| NC_000024.9:g.7606655C>G , CM000686.1:g.7606655C>G | GRCh37 |
| NC_000024.8:g.7666655C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651261.1:n.299-25517G>C | ||
| ENST00000455527.5:n.297-8774G>C |