Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127800337C>A , CM000671.2:g.127800337C>A | GRCh38 |
| NC_000009.11:g.130562616C>A , CM000671.1:g.130562616C>A | GRCh37 |
| NC_000009.10:g.129602437C>A | NCBI36 |
| NG_023245.1:g.2463C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479147.6:n.217-3948C>A | ||
| ENST00000479375.6:n.132-3948C>A |