Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.16493997C>T , CM000674.2:g.16493997C>T | GRCh38 |
| NC_000012.11:g.16646931C>T , CM000674.1:g.16646931C>T | GRCh37 |
| NC_000012.10:g.16538198C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538857.1:n.483-95531C>T | ||
| ENST00000539036.5:n.400+110393C>T |