Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.133875555A>G , CM000668.2:g.133875555A>G | GRCh38 |
| NC_000006.11:g.134196693A>G , CM000668.1:g.134196693A>G | GRCh37 |
| NC_000006.10:g.134238386A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109982.1:n.403+13049T>C |