Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14301611G>C , CM000678.2:g.14301611G>C | GRCh38 |
| NC_000016.9:g.14395468G>C , CM000678.1:g.14395468G>C | GRCh37 |
| NC_000016.8:g.14302969G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_170633.1:n.151+80G>C |