Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.609978C>T , CM000667.2:g.609978C>T | GRCh38 |
| NC_000005.9:g.610093C>T , CM000667.1:g.610093C>T | GRCh37 |
| NC_000005.8:g.663093C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_103444.1:n.366+1469G>A | |
| XR_925672.1:n.4781C>T | |
| XR_925672.3:n.4610C>T | |
| XR_925673.1:n.4681C>T | |
| XR_925673.2:n.4668C>T | |
| XR_925674.1:n.4533C>T |