Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127800419C>G , CM000671.2:g.127800419C>G | GRCh38 |
| NC_000009.11:g.130562698C>G , CM000671.1:g.130562698C>G | GRCh37 |
| NC_000009.10:g.129602519C>G | NCBI36 |
| NG_023245.1:g.2545C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479147.6:n.217-3866C>G | ||
| ENST00000479375.6:n.132-3866C>G |