Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11578006C>T , CM000670.2:g.11578006C>T | GRCh38 |
| NC_000008.10:g.11435515C>T , CM000670.1:g.11435515C>T | GRCh37 |
| NC_000008.9:g.11472924C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040035.1:n.784-364C>T |