Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.35981438C>A , CM000666.2:g.35981438C>A | GRCh38 |
| NC_000004.11:g.35983060C>A , CM000666.1:g.35983060C>A | GRCh37 |
| NC_000004.10:g.35659455C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503225.5:n.1607+3792G>T | ||
| XR_925192.1:n.1511G>T |