Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117365710C>T , CM000674.2:g.117365710C>T | GRCh38 |
| NC_000012.11:g.117803515C>T , CM000674.1:g.117803515C>T | GRCh37 |
| NC_000012.10:g.116287898C>T | NCBI36 |
| NG_011991.2:g.1068G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000549189.1:n.471-34221G>A |