Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55013445C>T , CM000681.2:g.55013445C>T | GRCh38 |
| NC_000019.8:g.60216625C>T | NCBI36 |
| NG_031963.2:g.29820G>A , LRG_560:g.29820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754012.2:n.312+6981C>T | ||
| XR_001754013.2:n.305+6981C>T |