Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6813824G>C , CM000667.2:g.6813824G>C | GRCh38 |
| NC_000005.9:g.6813937G>C , CM000667.1:g.6813937G>C | GRCh37 |
| NC_000005.8:g.6866937G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_146281.1:n.467-12819G>C |