Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44662451C>T , CM000667.2:g.44662451C>T | GRCh38 |
| NC_000005.9:g.44662553C>T , CM000667.1:g.44662553C>T | GRCh37 |
| NC_000005.8:g.44698310C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_427699.2:n.92-3894G>A | ||
| XR_925983.1:n.71-3894G>A |