Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.77215780G>A , CM000666.2:g.77215780G>A | GRCh38 |
| NC_000004.11:g.78136933G>A , CM000666.1:g.78136933G>A | GRCh37 |
| NC_000004.10:g.78355957G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000497512.5:n.1675+23513G>A | |
| ENST00000514756.1:n.101+23513G>A |